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
EPN3	55040	broad.mit.edu	37	17	48615485	48615485	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:48615485G>T	ENST00000268933.3	+	3	1187	c.608G>T	c.(607-609)cGg>cTg	p.R203L	EPN3_ENST00000541226.1_Missense_Mutation_p.R147L|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.R258L	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	203						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GAGCAGGCCCGGCCTCAGACG	0.632000													6	40					3.59834e-05	4.36941e-05	1	1	0
LGALS9	3965	broad.mit.edu	37	17	25972376	25972376	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:25972376G>T	ENST00000395473.2	+	6	2044		c.e6+1		LGALS9_ENST00000313648.6_Splice_Site|LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Splice_Site|LGALS9_ENST00000413914.2_Splice_Site	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9						positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGCTCCCATTGTAAGTCTCTT	0.587000													43	211					1.77205e-36	3.13567e-36	1	1	0
TAS1R2	80834	broad.mit.edu	37	1	19184092	19184092	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:19184092C>T	ENST00000375371.3	-	2	237	c.216G>A	c.(214-216)atG>atA	p.M72I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	72					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCATGGCCTGCATGAGGTTGT	0.532000													16	33					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54012259	54012259	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:54012259C>A	ENST00000338154.6	-	17	2623	c.2119G>T	c.(2119-2121)Gct>Tct	p.A707S	PHF8_ENST00000322659.8_Intron|PHF8_ENST00000357988.5_Missense_Mutation_p.A743S|PHF8_ENST00000338946.6_Missense_Mutation_p.A606S	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	743					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTGAGGGCAGCATAGTCAGGT	0.577000													12	42					1.61879e-10	2.35641e-10	1	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140794245	140794245	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:140794245G>A	ENST00000398610.2	+	1	1503	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCATCCAGGGGGTACCTC	0.522000													33	153					0	0	1	0	0
GPR135	64582	broad.mit.edu	37	14	59930848	59930848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:59930848G>T	ENST00000395116.1	-	1	1212	c.1097C>A	c.(1096-1098)tCg>tAg	p.S366*		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	366						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GCTGAGGAGCGAGGGGGCCTG	0.642000													7	39					8.12818e-05	9.57677e-05	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51947264	51947264	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:51947264C>A	ENST00000371117.3	-	4	482	c.207G>T	c.(205-207)gtG>gtT	p.V69V	PKHD1_ENST00000340994.4_Silent_p.V69V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	69	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCAGTGCGGGCACCACCATGT	0.498000													34	124					4.3181e-19	7.26295e-19	1	1	0
NCK2	8440	broad.mit.edu	37	2	106498290	106498290	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:106498290G>T	ENST00000233154.4	+	4	1175	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	NCK2_ENST00000393349.2_Missense_Mutation_p.G245C|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	245	SH3 3.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGCCAGGTGGGCCTCGTCCC	0.632000													13	70					2.27111e-07	3.01128e-07	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42583222	42583222	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:42583222A>T	ENST00000600245.1	+	2	1119	c.464A>T	c.(463-465)aAg>aTg	p.K155M	ZNF574_ENST00000359044.4_Missense_Mutation_p.K155M|ZNF574_ENST00000222339.7_Missense_Mutation_p.K245M|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACACCCACCAAGGCTCCTGCC	0.627000													37	76					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47685831	47685831	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:47685831C>A	ENST00000273857.4	-	7	937	c.938G>T	c.(937-939)tGt>tTt	p.C313F	CORIN_ENST00000504584.1_Missense_Mutation_p.C313F|CORIN_ENST00000508498.1_Missense_Mutation_p.C174F|CORIN_ENST00000502252.1_Missense_Mutation_p.C246F|CORIN_ENST00000505909.1_Missense_Mutation_p.C313F	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	313	LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCCTGTGTGACAGTGAAACAG	0.418000													12	61					9.31168e-06	1.16641e-05	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930560	46930560	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:46930560T>A	ENST00000264318.3	-	9	2329	c.1347A>T	c.(1345-1347)agA>agT	p.R449S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	449					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGAAGTGCTCTTGCTGCAG	0.463000													9	135					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30928087	30928087	+	Splice_Site	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:30928087C>G	ENST00000597505.1	-	28	4103	c.4104_splice	c.e28+1	p.E1368_splice	DCDC1_ENST00000406071.2_Splice_Site_p.E103_splice|DCDC1_ENST00000339794.5_Splice_Site_p.E447_splice			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CATTACATACCTCAGCCACAC	0.443000													3	21					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082025	140082025	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:140082025C>T	ENST00000323927.2	-	2	652	c.648G>A	c.(646-648)ctG>ctA	p.L216L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	216					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCGGGCTCTGCAGGAGCCGGT	0.612000													14	91					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													8	98					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213640	3213640	+	RNA	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:3213640G>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							ATTCAGTTGTGACCAAGTTTG	0.537000													8	69					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19737503	19737503	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr21:19737503A>T	ENST00000284885.3	-	7	760	c.727T>A	c.(727-729)Tat>Aat	p.Y243N		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	243	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGTTTTGGATAATGAGTAGCC	0.363000													12	80					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114004416	114004416	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:114004416C>A	ENST00000429538.3	-	3	300	c.106G>T	c.(106-108)Gac>Tac	p.D36Y	PAX8_ENST00000397647.3_Missense_Mutation_p.D36Y|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.D36Y|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.D36Y|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.D36Y|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	36	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGGGCCAGGTCTACGATGCGC	0.602000			T	PPARG	follicular thyroid		Thyroid dysgenesis						6	59					0.0215528	0.022351	1	1	0
SDF2	6388	broad.mit.edu	37	17	26976080	26976080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:26976080C>T	ENST00000247020.4	-	3	861	c.563G>A	c.(562-564)tGg>tAg	p.W188*	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	188	MIR 3.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CATGGCTTTCCAGTAGTTGTT	0.507000													21	103					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692204	31692204	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr21:31692204G>A	ENST00000360542.3	-	1	403	c.150C>T	c.(148-150)acC>acT	p.T50T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	50						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CTGTGACCCAGGTATGGTCTT	0.562000													22	151					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20067030	20067030	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:20067030G>T	ENST00000276390.2	+	3	319	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	93					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GTGGTTCCAAGGCAGTAGTTC	0.433000													5	39					0.014758	0.0154053	1	1	0
RALGPS1	9649	broad.mit.edu	37	9	129928387	129928387	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:129928387A>G	ENST00000259351.5	+	9	917	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	RALGPS1_ENST00000373436.1_Missense_Mutation_p.Y217C|RALGPS1_ENST00000373434.1_Missense_Mutation_p.Y217C|RALGPS1_ENST00000394022.3_Missense_Mutation_p.Y217C|RALGPS1_ENST00000424082.2_Missense_Mutation_p.Y217C	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	217	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GATTCTGCATATCCTGCCTCA	0.348000													6	40					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616590	25616590	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr15:25616590A>C	ENST00000232165.3	-	6	1387	c.731T>G	c.(730-732)cTc>cGc	p.L244R	UBE3A_ENST00000428984.2_Missense_Mutation_p.L224R|UBE3A_ENST00000397954.2_Missense_Mutation_p.L247R|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.L224R|UBE3A_ENST00000566215.1_Missense_Mutation_p.L224R	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	247					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCATTAGAGAGCAATCTGGT	0.393000													20	146					0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957926	152957926	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:152957926C>A	ENST00000307122.2	+	2	284	c.220C>A	c.(220-222)Cct>Act	p.P74T	SPRR1A_ENST00000368762.1_Missense_Mutation_p.P74T	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	74	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGCCCTGCCCTTCAACGGT	0.627000													18	122					8.28177e-16	1.34086e-15	1	1	0
ZNF114	163071	broad.mit.edu	37	19	48789060	48789060	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:48789060C>A	ENST00000595607.1	+	6	673	c.179C>A	c.(178-180)cCg>cAg	p.P60Q	ZNF114_ENST00000600687.1_Missense_Mutation_p.P60Q|ZNF114_ENST00000315849.1_Missense_Mutation_p.P60Q|ZNF114_ENST00000597695.1_Missense_Mutation_p.P26Q			Q8NC26	ZN114_HUMAN	zinc finger protein 114	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACCCCTCAGCCGGATATTCTT	0.443000													24	103					1.1804e-14	1.87916e-14	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21478501	21478501	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:21478501C>G	ENST00000281523.2	-	5	1152	c.634G>C	c.(634-636)Gct>Cct	p.A212P		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	212						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAGTTGACAGCAACCTTGCAT	0.473000													11	94					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28840733	28840733	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:28840733G>T	ENST00000336783.4	+	7	920	c.753G>T	c.(751-753)tgG>tgT	p.W251C	ATXN2L_ENST00000382686.4_Missense_Mutation_p.W251C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.W251C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.W251C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.W251C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.W251C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.W251C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	251						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAATGGATGGGACCCCAATG	0.448000													17	21					1.45105e-14	2.30234e-14	1	1	0
RHBDD2	57414	broad.mit.edu	37	7	75511472	75511472	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:75511472G>T	ENST00000318622.4	+	3	710	c.81G>T	c.(79-81)ccG>ccT	p.P27P	RHBDD2_ENST00000006777.6_Silent_p.P168P|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.P27P	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	168						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TCCTGGTTCCGTGGCTCCTGC	0.617000													12	44					3.07112e-06	3.90869e-06	1	1	0
CELA1	1990	broad.mit.edu	37	12	51733746	51733746	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:51733746G>T	ENST00000293636.1	-	6	547	c.507C>A	c.(505-507)ccC>ccA	p.P169P		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	169	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						AGTCCACAGAGGGCAGGTAAG	0.592000													4	21					0.150653	0.152253	1	1	0
PABPC5	140886	broad.mit.edu	37	X	90691533	90691533	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:90691533G>T	ENST00000312600.3	+	2	1171	c.957G>T	c.(955-957)aaG>aaT	p.K319N	PABPC5_ENST00000373105.1_Missense_Mutation_p.K155N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	319	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAAACTGAAGGAGGAATTTT	0.438000													8	68					5.18039e-06	6.52346e-06	1	1	0
PIP4K2C	79837	broad.mit.edu	37	12	57987807	57987807	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:57987807G>A	ENST00000354947.5	+	2	190		c.e2-1		PIP4K2C_ENST00000550465.1_Splice_Site|PIP4K2C_ENST00000422156.3_Splice_Site|PIP4K2C_ENST00000540759.2_Splice_Site			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TGGCTTATCAGATCAATGAGC	0.527000													7	121					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717189	13717189	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:13717189C>T	ENST00000279593.3	-	13	3192	c.2983G>A	c.(2983-2985)Ggc>Agc	p.G995S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	995					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.G995R(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGCACTGCCAATACTATGG	0.572000													31	54					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097381	144097381	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:144097381A>C	ENST00000467773.1	-	5	868	c.869T>G	c.(868-870)aTa>aGa	p.I290R	NOBOX_ENST00000483238.1_Missense_Mutation_p.I290R|NOBOX_ENST00000223140.5_Missense_Mutation_p.I205R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	290					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTCTTGGAATATCTTCTCTAG	0.527000													13	64					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222682	152222682	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:152222682C>A	ENST00000243347.3	+	3	420	c.345C>A	c.(343-345)atC>atA	p.I115I		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	115	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATTATGGAATCCGTCTCAATA	0.433000													8	97					1.06961e-07	1.44231e-07	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128302195	128302195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:128302195G>A	ENST00000262462.4	+	1	1375	c.365G>A	c.(364-366)tGg>tAg	p.W122*	SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.W122*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.W122*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	122					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)		GTTCACGTGTGGTTCGGCCTC	0.592000													7	47					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185279	127185279	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:127185279C>A	ENST00000371124.3	-	1	1103	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	303						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGAGTGGTGCCCCCGGAGAGT	0.507000													9	147					0.000274275	0.00031459	1	1	0
PPP2R1A	5518	broad.mit.edu	37	19	52722945	52722945	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:52722945G>T	ENST00000322088.6	+	10	1188	c.1128_splice	c.e10-1	p.C377_splice	PPP2R1A_ENST00000462990.1_Splice_Site_p.C198_splice|PPP2R1A_ENST00000444322.2_Splice_Site_p.C322_splice	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	377	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCTCCTCAGTGCCCTGAGGTA	0.527000			Mis		clear cell ovarian carcinoma								18	33					4.96729e-08	6.77487e-08	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96123960	96123960	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:96123960G>A	ENST00000453304.1	-	12	2406	c.2058C>T	c.(2056-2058)atC>atT	p.I686I		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	686					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGGGCCCAAAGATGGCCAGCT	0.597000													8	54					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159196813	159196813	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:159196813G>C	ENST00000283233.5	-	5	740	c.427C>G	c.(427-429)Cac>Gac	p.H143D	CCDC148_ENST00000409187.1_Missense_Mutation_p.H152D|CCDC148_ENST00000409889.1_Missense_Mutation_p.H143D|CCDC148_ENST00000536771.1_Missense_Mutation_p.H57D	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	143										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGCAAAGTGTGATGCTGTCTG	0.348000													15	59					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70456628	70456628	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:70456628C>A	ENST00000377844.4	-	5	1774		c.e5-1		KLHL1_ENST00000545028.1_Splice_Site	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1						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)		TTATGTTTTCCTGCAGGGAGA	0.353000													10	34					9.70103e-10	1.37841e-09	1	1	0
ZNF33B	7582	broad.mit.edu	37	10	43088807	43088807	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:43088807C>A	ENST00000359467.3	-	5	1705	c.1591G>T	c.(1591-1593)Ggg>Tgg	p.G531W	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	531						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AAGGTTTTCCCACATTCATAA	0.418000													18	115					3.99206e-14	6.27135e-14	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161522540	161522540	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:161522540G>T	ENST00000356592.3	+	3	759	c.299G>T	c.(298-300)aGc>aTc	p.S100I	GABRG2_ENST00000393933.4_Missense_Mutation_p.S5I|GABRG2_ENST00000361925.4_Missense_Mutation_p.S100I|GABRG2_ENST00000414552.2_Missense_Mutation_p.S100I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	100					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)		TATGTGAATAGCATTGGTCCA	0.333000													4	22					0.00116845	0.00128152	1	1	0
FAM92A1	137392	broad.mit.edu	37	8	94722018	94722018	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:94722018G>C	ENST00000518322.1	+	6	599	c.458G>C	c.(457-459)aGa>aCa	p.R153T	FAM92A1_ENST00000519679.1_5'UTR|FAM92A1_ENST00000423990.2_Missense_Mutation_p.R153T|FAM92A1_ENST00000517718.1_5'UTR	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	153										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GAATTACAGAGAGCTGCAATG	0.363000													3	17					0	0	1	0	0
BTG2	7832	broad.mit.edu	37	1	203276426	203276426	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:203276426A>T	ENST00000290551.4	+	2	408	c.337A>T	c.(337-339)Att>Ttt	p.I113F		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	113					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GTCCTACCGCATTGGGGAGGA	0.667000													6	80					0	0	1	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489594	74489594	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:74489594C>A	ENST00000333421.6	-	2	514	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	ABHD17B_ENST00000377041.2_Missense_Mutation_p.G135W	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		GTGGGTTTCCCGGAACTGGCA	0.393000													9	74					0.000274275	0.00031459	1	1	0
C8B	732	broad.mit.edu	37	1	57411516	57411516	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:57411516G>T	ENST00000543257.1	-	8	1493	c.927C>A	c.(925-927)aaC>aaA	p.N309K	C8B_ENST00000535057.1_Missense_Mutation_p.N299K|C8B_ENST00000371237.4_Missense_Mutation_p.N361K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	361	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGCCTCTTTGTTCATAACGA	0.473000													6	77					3.59834e-05	4.36941e-05	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26743756	26743756	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr22:26743756G>A	ENST00000529632.2	+	11	2480	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	SEZ6L_ENST00000248933.6_Missense_Mutation_p.E762K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E535K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E762K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E535K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E762K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E762K|SEZ6L_ENST00000411842.2_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	762	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCTCACACGGAGTTGGTGCG	0.537000													22	77					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888009	25888009	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:25888009C>T	ENST00000376351.3	+	11	3813	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1152						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1152C(1)		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						GGAGAATGTGCGTGGCTCCTA	0.443000													10	47					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573164	140573164	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:140573164C>A	ENST00000239446.4	+	1	1223	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		347	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCCTGAACTGATCGTATC	0.418000													12	73					5.50884e-06	6.91875e-06	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67155937	67155937	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:67155937C>G	ENST00000371037.4	+	17	1585	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G	SGIP1_ENST00000371035.3_Missense_Mutation_p.A293G|SGIP1_ENST00000371036.3_Missense_Mutation_p.A303G|SGIP1_ENST00000371039.1_Missense_Mutation_p.A304G|SGIP1_ENST00000237247.6_Missense_Mutation_p.A534G	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	503					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.A304D(1)|p.A503D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTAGCGCGGGCTGAAAGCACT	0.458000													35	143					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52878678	52878678	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:52878678C>A	ENST00000356971.3	-	10	1423	c.934G>T	c.(934-936)Ggc>Tgc	p.G312C	ICK_ENST00000350082.5_Missense_Mutation_p.G312C	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	312					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GGAGGTGGGCCTGCCTTTTCC	0.522000													5	68					1.23904e-05	1.52794e-05	1	1	0
GAB2	9846	broad.mit.edu	37	11	77991885	77991885	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:77991885C>T	ENST00000361507.4	-	2	223	c.138G>A	c.(136-138)ctG>ctA	p.L46L	GAB2_ENST00000340149.2_Silent_p.L8L|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	46	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGTAGTATTCCAGAACATCTG	0.502000													14	125					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953401	56953401	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:56953401T>G	ENST00000504904.3	-	7	1682	c.963A>C	c.(961-963)caA>caC	p.Q321H	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.Q449H|ZNF667_ENST00000292069.6_Missense_Mutation_p.Q321H			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGTGACTTCTTTGCTGTAGAC	0.373000													37	86					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290643	102290643	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:102290643C>T	ENST00000370103.4	-	4	744	c.531G>A	c.(529-531)gaG>gaA	p.E177E	OLFM3_ENST00000338858.5_Silent_p.E197E|OLFM3_ENST00000359814.3_Silent_p.E197E|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Silent_p.E102E	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	197						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGTGTAGTTCCTCGTAGTCAT	0.398000													8	48					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945011	43945011	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:43945011C>T	ENST00000389420.3	-	2	153	c.154G>A	c.(154-156)Gga>Aga	p.G52R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G52R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	52						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)		AACACTTCTCCAAACTCATTG	0.592000													10	52					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886890	2886890	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:2886890G>C	ENST00000520002.1	-	52	8364	c.7809C>G	c.(7807-7809)tgC>tgG	p.C2603W	CSMD1_ENST00000400186.3_Missense_Mutation_p.C2603W|CSMD1_ENST00000602723.1_Missense_Mutation_p.C2603W|CSMD1_ENST00000602557.1_Missense_Mutation_p.C2603W|CSMD1_ENST00000542608.1_Missense_Mutation_p.C2602W|CSMD1_ENST00000537824.1_Missense_Mutation_p.C2602W			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2603	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTGGCCTGGCACCGCAGGA	0.532000													14	17					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721722	198721722	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:198721722G>T	ENST00000367376.2	+	31	3495		c.e31-1		PTPRC_ENST00000348564.6_Splice_Site|PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTGATTTTAGAGGAAAGACT	0.358000													4	36					1	1	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55119943	55119943	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:55119943G>T	ENST00000370862.3	+	3	748	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	138					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GACCGTGTCGGTGTCTGTGTC	0.423000													10	47					6.40141e-05	7.57978e-05	1	1	0
EP300	2033	broad.mit.edu	37	22	41513609	41513609	+	Silent	SNP	G	G	T	rs146041458		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr22:41513609G>T	ENST00000263253.7	+	2	1732	c.513G>T	c.(511-513)gcG>gcT	p.A171A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	171					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATGAATGCGGGCATGAATC	0.502000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				18	96					3.41278e-10	4.92268e-10	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118969033	118969033	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:118969033C>A	ENST00000334549.1	+	3	378	c.378C>A	c.(376-378)acC>acA	p.T126T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	126						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ACCCCGTCACCAGGCTTGGCA	0.498000													73	189					7.33394e-39	1.31239e-38	1	1	0
BAZ2B	29994	broad.mit.edu	37	2	160289280	160289280	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:160289280C>T	ENST00000392783.2	-	9	2383	c.1888G>A	c.(1888-1890)Gac>Aac	p.D630N	BAZ2B_ENST00000343439.5_Missense_Mutation_p.D628N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D628N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D630N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	630	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GATTGGCTGTCATCAGAttca	0.313000													5	38					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48272780	48272780	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:48272780C>G	ENST00000229022.3	-	4	398	c.117G>C	c.(115-117)atG>atC	p.M39I	VDR_ENST00000550325.1_Missense_Mutation_p.M89I|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000549336.1_Missense_Mutation_p.M39I|VDR_ENST00000395324.2_Missense_Mutation_p.M39I	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	39					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CTTCACAGGTCATAGCATTGA	0.582000													8	58					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062138	216062138	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:216062138C>A	ENST00000366943.2	-	41	8239	c.7853G>T	c.(7852-7854)tGg>tTg	p.W2618L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2618L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2618	Fibronectin type-III 12.				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)		TGGGAGTGTCCATACAGTCTG	0.498000										HNSCC(13;0.011)			8	79					1.06961e-07	1.44231e-07	1	1	0
PHF14	9678	broad.mit.edu	37	7	11022326	11022326	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:11022326C>T	ENST00000403050.3	+	3	892	c.440C>T	c.(439-441)tCt>tTt	p.S147F	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	147							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTGGCTGCTTCTGCTGCTGCC	0.463000													5	19					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767578	20767578	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:20767578C>A	ENST00000258821.3	-	4	482	c.426G>T	c.(424-426)ctG>ctT	p.L142L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	142					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GCACCATTGACAGGTTTTGCA	0.473000													13	91					3.27435e-08	4.47871e-08	1	1	0
RRP7BP	91695	broad.mit.edu	37	22	42971987	42971987	+	RNA	SNP	T	T	C	rs137064	by1000genomes	TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr22:42971987T>C	ENST00000357802.2	-	0	733																		p.Q59R(1)									CAGCTCTTTTTGGCTGCGCTT	0.672000													3	28					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34205489	34205489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:34205489G>T	ENST00000257209.4	+	10	1095	c.973G>T	c.(973-975)Gag>Tag	p.E325*	FHOD3_ENST00000445677.1_Nonsense_Mutation_p.E325*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.E325*|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.E325*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	325	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCTCAGGCACGAGGATGGCGA	0.652000													14	45					4.3838e-07	5.7803e-07	1	1	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCGCCCATGCAGGAACTGTT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	36					8.58068e-18	1.42314e-17	1	1	0
ANKLE2	23141	broad.mit.edu	37	12	133324508	133324508	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:133324508C>T	ENST00000539605.1	-	4	7638	c.954G>A	c.(952-954)atG>atA	p.M318I	ANKLE2_ENST00000337516.5_Missense_Mutation_p.M380I|ANKLE2_ENST00000357997.5_Missense_Mutation_p.M380I			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	380						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACATCAGCCTCATGAAGTCAG	0.562000													12	74					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196883970	196883970	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:196883970T>A	ENST00000312428.6	-	9	893	c.793A>T	c.(793-795)Agt>Tgt	p.S265C	DNAH7_ENST00000410072.1_Missense_Mutation_p.S265C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	265	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						CTAATATAACTGCTTGCAGCT	0.338000													24	44					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834065	125834065	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:125834065G>T	ENST00000299308.3	+	2	128	c.120G>T	c.(118-120)acG>acT	p.T40T	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	40						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTCCCCACGAACTTGCACA	0.502000													16	135					1.15088e-07	1.53881e-07	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79441495	79441495	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:79441495C>T	ENST00000428286.1	-	5	785		c.e5+1		PRUNE2_ENST00000376713.3_Splice_Site|PRUNE2_ENST00000376718.3_Splice_Site			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGTCACTCACCCTGAGCACT	0.473000													12	222					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236759145	236759145	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:236759145C>G	ENST00000366582.3	-	7	1058	c.944G>C	c.(943-945)aGc>aCc	p.S315T	HEATR1_ENST00000366581.2_Missense_Mutation_p.S315T|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	315					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTCCCAAGGCTCTCTGGCTT	0.353000													11	64					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524392	51524392	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:51524392C>A	ENST00000371117.3	-	61	10807	c.10532G>T	c.(10531-10533)gGg>gTg	p.G3511V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3511					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAAACTTTCCCCTAAGAAGAC	0.433000													10	68					2.74318e-10	3.96886e-10	1	1	0
THOC1	9984	broad.mit.edu	37	18	214838	214838	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:214838G>T	ENST00000261600.6	-	21	1769	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	588	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TAGGGAGCCAGAATCTTCCAT	0.448000													38	69					6.1244e-12	9.22537e-12	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059389	248059389	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:248059389C>A	ENST00000537741.1	+	3	758	c.501C>A	c.(499-501)ccC>ccA	p.P167P	OR2W3_ENST00000360358.3_Silent_p.P167P			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCGCTTACCCCGCTGTGGGC	0.642000													14	65					2.32078e-09	3.26832e-09	1	1	0
TGM6	343641	broad.mit.edu	37	20	2384052	2384052	+	Silent	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:2384052T>C	ENST00000202625.2	+	8	1060	c.999T>C	c.(997-999)caT>caC	p.H333H	TGM6_ENST00000381423.1_Silent_p.H333H	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	333					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGAATTTCCATGTCTGGAATG	0.582000													6	32					0	0	1	0	0
LOC728554	728554	broad.mit.edu	37	5	177310792	177310792	+	RNA	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:177310792C>T	ENST00000506672.1	+	0	1089					NR_003615.2																						GCCGGGAAGCCGGAACTGTGA	0.542000													4	55					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31661244	31661244	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:31661244G>C	ENST00000295770.2	+	9	1458	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	STT3B_ENST00000453168.1_Intron	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	417					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTCTTCTTTGATCTACATAT	0.348000													6	76					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133498163	133498163	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:133498163G>C	ENST00000319725.9	+	10	915	c.840G>C	c.(838-840)caG>caC	p.Q280H		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	280	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AAAAGATCCAGAATGATGCTG	0.373000													12	92					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764582	138764582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:138764582G>A	ENST00000242351.5	-	4	1421	c.1105C>T	c.(1105-1107)Caa>Taa	p.Q369*	ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q369*|ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q369*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	369					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTGGCGCCTTGGTCATTCGTC	0.542000													30	135					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166915	19166915	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:19166915G>A	ENST00000375371.3	-	6	1719	c.1698C>T	c.(1696-1698)acC>acT	p.T566T		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	566					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACAGCGATGGTGGGTGCCT	0.607000													5	72					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108620910	108620910	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:108620910T>A	ENST00000332082.4	+	7	1766	c.948T>A	c.(946-948)agT>agA	p.S316R	WSCD2_ENST00000261400.3_Missense_Mutation_p.S316R|WSCD2_ENST00000547525.1_Missense_Mutation_p.S316R|WSCD2_ENST00000549903.1_Missense_Mutation_p.S316R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	316	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGACTCCTAGTTACTTCATTG	0.587000													8	47					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156821692	156821692	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:156821692C>A	ENST00000368195.3	-	3	1325	c.929G>T	c.(928-930)cGt>cTt	p.R310L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	310					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGCTATTACGGGTGAAGCC	0.647000													11	19					0.00829132	0.00884903	1	1	0
CYP46A1	10858	broad.mit.edu	37	14	100184456	100184456	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:100184456G>A	ENST00000554176.1	+	5	1180	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	CYP46A1_ENST00000423126.2_Missense_Mutation_p.V228M|CYP46A1_ENST00000261835.3_Missense_Mutation_p.V325M			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	325					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCCAGAGATCGTGGCAAGGTA	0.602000													6	47					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060271	12060271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:12060271G>T	ENST00000482090.1	+	3	1796	c.1378G>T	c.(1378-1380)Gaa>Taa	p.E460*	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Nonsense_Mutation_p.E478*|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGAATGTAAGGAATGTGGGAA	0.418000													21	48					1.01871e-10	1.48744e-10	1	1	0
CDC6	990	broad.mit.edu	37	17	38457222	38457222	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:38457222G>T	ENST00000209728.4	+	10	1863	c.1392G>T	c.(1390-1392)ttG>ttT	p.L464F		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	464					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AGAAGATCTTGGTTTGCTCTT	0.453000													26	124					1.1804e-14	1.87916e-14	1	1	0
NEFH	4744	broad.mit.edu	37	22	29885372	29885372	+	Silent	SNP	C	C	A	rs112681041		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr22:29885372C>A	ENST00000310624.6	+	4	1776	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	581	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCAAGTCCCCCGAGAAGGCCA	0.562000													29	77					7.38237e-10	1.05526e-09	1	1	0
NFATC3	4775	broad.mit.edu	37	16	68156120	68156120	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:68156120C>G	ENST00000349223.5	+	2	558	c.334C>G	c.(334-336)Caa>Gaa	p.Q112E	NFATC3_ENST00000329524.4_Missense_Mutation_p.Q112E|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000346183.3_Missense_Mutation_p.Q112E|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.Q112E	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	112	Calcineurin-binding.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCCAAGTATTCAAATTACATC	0.398000													16	91					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693373	94693373	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:94693373G>T	ENST00000282020.4	+	16	3006	c.2748G>T	c.(2746-2748)ctG>ctT	p.L916L	GRID2_ENST00000510992.1_Silent_p.L821L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	916					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GACAAGCACTGGAGCAAATCA	0.473000													25	105					5.35356e-11	7.8651e-11	1	1	0
TM7SF3	51768	broad.mit.edu	37	12	27152467	27152467	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:27152467G>A	ENST00000343028.4	-	3	614	c.389C>T	c.(388-390)tCa>tTa	p.S130L	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	130						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ACCTCTTTCTGAGTAGGAGAG	0.423000													7	75					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303631	151303631	+	Silent	SNP	C	C	A	rs146444641	byFrequency	TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:151303631C>A	ENST00000370323.4	-	4	778	c.462G>T	c.(460-462)ccG>ccT	p.P154P	MAGEA10_ENST00000244096.3_Silent_p.P154P|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	154	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGTGATCGGCTCCTTCA	0.443000													19	171					5.03518e-11	7.42027e-11	1	1	0
BPIFB4	149954	broad.mit.edu	37	20	31671270	31671270	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:31671270C>T	ENST00000375483.3	+	3	267	c.267C>T	c.(265-267)caC>caT	p.H89H		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	89						cytoplasm|extracellular region	lipid binding										AGTATGGTCACATTGAGACCA	0.502000													16	71					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201027590	201027590	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:201027590A>C	ENST00000362061.3	-	28	3781	c.3555T>G	c.(3553-3555)ttT>ttG	p.F1185L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.F1185L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1185					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGGAAGTCAAACACATTCC	0.552000													10	48					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62065758	62065758	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:62065758G>C	ENST00000404929.1	-	4	1677	c.1666C>G	c.(1666-1668)Cag>Gag	p.Q556E	FAM161A_ENST00000405894.3_Intron	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	539					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGAGTTTCTGCAATTCTTTC	0.368000													11	105					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215987158	215987158	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:215987158C>A	ENST00000366943.2	-	49	10045	c.9659G>T	c.(9658-9660)gGa>gTa	p.G3220V	USH2A_ENST00000307340.3_Missense_Mutation_p.G3220V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3220					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)		ACAACAAACTCCAGTAGAATT	0.453000										HNSCC(13;0.011)			11	79					1.58986e-06	2.05088e-06	1	1	0
MRPL28	10573	broad.mit.edu	37	16	418328	418328	+	Splice_Site	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:418328C>G	ENST00000199706.8	-	5	698	c.663_splice	c.e5+1	p.K221_splice	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Splice_Site_p.K221_splice	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	221					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				ACACACTCACCTTCTCCTCCA	0.612000													18	58					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601707	138601707	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:138601707C>A	ENST00000440172.1	-	2	2713	c.2665G>T	c.(2665-2667)Ggt>Tgt	p.G889C	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G839C|KIAA1549_ENST00000422774.1_Missense_Mutation_p.G889C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	889						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGCAGCACCGGTGCTGGTT	0.652000			O	BRAF	pilocytic astrocytoma								9	26					0.0477658	0.0492132	1	1	0
MTO1	25821	broad.mit.edu	37	6	74183372	74183372	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:74183372A>C	ENST00000498286.1	+	4	1097	c.820A>C	c.(820-822)Att>Ctt	p.I274L	MTO1_ENST00000370300.4_Missense_Mutation_p.I274L|MTO1_ENST00000415954.2_Missense_Mutation_p.I274L|MTO1_ENST00000370305.1_Missense_Mutation_p.I200L			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	274					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GACAGTATGGATTAAGGTAAG	0.378000													10	49					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89237233	89237233	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:89237233G>A	ENST00000370521.3	+	5	1111	c.752G>A	c.(751-753)aGa>aAa	p.R251K	PKN2_ENST00000370513.5_Missense_Mutation_p.R251K|PKN2_ENST00000370505.3_Missense_Mutation_p.R94K|PKN2_ENST00000316005.7_Missense_Mutation_p.R251K	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	251					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTAACAGACAGAAAAGCACTT	0.284000													4	37					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343205	69343205	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:69343205T>A	ENST00000305363.4	+	8	890	c.826T>A	c.(826-828)Tat>Aat	p.Y276N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	276	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ATCACATGACTATGATATTTC	0.413000													54	383					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216462736	216462736	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:216462736C>A	ENST00000366943.2	-	11	2243	c.1857G>T	c.(1855-1857)ctG>ctT	p.L619L	USH2A_ENST00000366942.3_Silent_p.L619L|USH2A_ENST00000307340.3_Silent_p.L619L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	619	Laminin EGF-like 2.				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)		AATCCTTGCACAGCTCACAGT	0.398000										HNSCC(13;0.011)			17	65					4.7546e-09	6.63693e-09	1	1	0
BRSK1	84446	broad.mit.edu	37	19	55815433	55815433	+	Silent	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:55815433T>C	ENST00000309383.1	+	13	1579	c.1302T>C	c.(1300-1302)agT>agC	p.S434S	BRSK1_ENST00000590333.1_Silent_p.S450S|BRSK1_ENST00000326848.7_Silent_p.S129S|BRSK1_ENST00000588584.1_3'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	434					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GTAGCGTCAGTGGAGCCTCCA	0.502000													9	9					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61340911	61340911	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:61340911C>T	ENST00000370501.3	+	1	723	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	118						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CACCCTGCTGCTGGCCATGCC	0.677000													6	44					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358513	10358513	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:10358513G>T	ENST00000255381.2	-	20	2384	c.2274C>A	c.(2272-2274)acC>acA	p.T758T	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	758	Myosin head-like.				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						ATTTGTACTGGGTGTGGTCAA	0.388000													16	52					6.72482e-11	9.84928e-11	1	1	0
COL25A1	84570	broad.mit.edu	37	4	109783673	109783673	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:109783673C>A	ENST00000399132.1	-	22	1711	c.1181G>T	c.(1180-1182)gGc>gTc	p.G394V	COL25A1_ENST00000399127.1_Intron|COL25A1_ENST00000399126.1_Missense_Mutation_p.G394V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	394	Collagen-like 5.					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)		CCCCTTTGGGCCTCTAGTTCC	0.368000													71	200					3.20846e-33	5.6564e-33	1	1	0
EPHA7	2045	broad.mit.edu	37	6	94120701	94120701	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:94120701C>T	ENST00000369303.4	-	3	534	c.350G>A	c.(349-351)gGa>gAa	p.G117E	EPHA7_ENST00000369297.1_Missense_Mutation_p.G117E	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	117						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTGCAAGTTCCCAGTACTCC	0.383000													15	130					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478547	69478547	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:69478547C>A	ENST00000374519.2	-	1	1107	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	310					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						TATTTGTCCCCAGTGAGCAAG	0.592000													4	25					0.00024832	0.000287592	1	1	0
BRCA1	672	broad.mit.edu	37	17	41222996	41222996	+	Missense_Mutation	SNP	C	C	A	rs80357373		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:41222996C>A	ENST00000309486.4	-	14	5074	c.4047G>T	c.(4045-4047)agG>agT	p.R1349S	BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666S|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541S|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1645S|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503S|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136S|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598S|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541S|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.R462S	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1645					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTTGTTGACCCTTTCTGTTG	0.438000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			17	112					6.94344e-10	9.95506e-10	1	1	0
MCHR2	84539	broad.mit.edu	37	6	100368858	100368858	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:100368858C>G	ENST00000281806.2	-	6	1295	c.981G>C	c.(979-981)aaG>aaC	p.K327N	MCHR2_ENST00000369212.1_Missense_Mutation_p.K327N|MCHR2_ENST00000445970.1_Missense_Mutation_p.K327N	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	327						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGTTGATTTCCTTCTCAGTCG	0.408000													16	126					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134683590	134683590	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:134683590C>A	ENST00000370752.4	+	7	1100	c.766C>A	c.(766-768)Cca>Aca	p.P256T	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	256										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATCCAGGCCAAGCAATTC	0.388000													33	214					4.74835e-14	7.43492e-14	1	1	0
CCL16	6360	broad.mit.edu	37	17	34308430	34308430	+	Silent	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:34308430A>T	ENST00000293275.3	-	1	102	c.27T>A	c.(25-27)tcT>tcA	p.S9S		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	9					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGACAAGGAGAGACAGGGCAG	0.557000													4	22					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875339	247875339	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:247875339G>T	ENST00000302084.2	-	1	766	c.719C>A	c.(718-720)aCg>aAg	p.T240K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	240					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)			CGAGGAGCACGTGGAGAAGGC	0.522000													34	101					1.61788e-16	2.63736e-16	1	1	0
RUNX1T1	862	broad.mit.edu	37	8	93003869	93003869	+	Missense_Mutation	SNP	A	A	T	rs143599137		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:93003869A>T	ENST00000523629.1	-	7	1443	c.989T>A	c.(988-990)aTg>aAg	p.M330K	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.M341K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.M293K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.M293K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.M303K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.M293K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.M330K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.M303K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	330					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTCTTACCCATAGGTCTGTT	0.488000													42	120					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57009107	57009107	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:57009107G>A	ENST00000179765.5	-	3	620	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	BAZ2A_ENST00000551812.1_Missense_Mutation_p.R143W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R141W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R143W			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	143					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCCCAGCCCGAAGGTTAGTG	0.542000													13	68					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181453016	181453016	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:181453016A>T	ENST00000526775.1	+	1	301	c.136A>T	c.(136-138)Agg>Tgg	p.R46W	CACNA1E_ENST00000367567.4_De_novo_Start_InFrame|CACNA1E_ENST00000358338.5_De_novo_Start_InFrame|CACNA1E_ENST00000357570.5_De_novo_Start_InFrame|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R46W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R46W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R46W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	46					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAAGCACAGAGGGCGCGGAC	0.602000													25	120					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49422659	49422659	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:49422659T>A	ENST00000301067.7	-	45	14333	c.14334A>T	c.(14332-14334)aaA>aaT	p.K4778N		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTCACTTCCTTTGCCCTTTT	0.552000													25	129					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50512969	50512969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:50512969C>A	ENST00000419119.1	-	2	3570	c.2017G>T	c.(2017-2019)Gga>Tga	p.G673*	FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.G673*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.G673*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.G673*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	673					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ACTTACTTTCCACAACCAAAA	0.333000													10	35					2.17888e-05	2.67306e-05	1	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798441	55798441	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:55798441C>A	ENST00000313555.1	+	1	547	c.547C>A	c.(547-549)Cct>Act	p.P183T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGATATCCCACCTCTTCTGGC	0.423000													32	369					6.38683e-12	9.59032e-12	1	1	0
PAX1	5075	broad.mit.edu	37	20	21695213	21695213	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:21695213C>A	ENST00000398485.2	+	5	1431	c.1377C>A	c.(1375-1377)ccC>ccA	p.P459P	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	459					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCAGCTCTCCCCGGACCCGAG	0.731000													5	8					0.000602214	0.000676071	1	1	0
SAMD4A	23034	broad.mit.edu	37	14	55241779	55241779	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:55241779G>A	ENST00000251091.5	+	8	1884	c.1579G>A	c.(1579-1581)Ggc>Agc	p.G527S	SAMD4A_ENST00000392067.3_Missense_Mutation_p.G615S|SAMD4A_ENST00000357634.3_Missense_Mutation_p.G614S|SAMD4A_ENST00000555192.1_Missense_Mutation_p.G206S|SAMD4A_ENST00000554335.1_Missense_Mutation_p.G615S	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	615					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GGGCCTCTTGGGCACCAGTGG	0.632000													12	87					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167506947	167506947	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:167506947G>T	ENST00000295777.5	+	2	462	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	SERPINI1_ENST00000446050.2_Missense_Mutation_p.V11F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	11					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTCTTTGCTGGTTCTGCAAAG	0.378000													8	80					0.0477658	0.0492132	1	1	0
MIA2	117153	broad.mit.edu	37	14	39721951	39721951	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:39721951G>A	ENST00000280082.3	+	5	1766		c.e5-1		RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2							extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTATTTGTAGATATGGTCTC	0.338000													10	78					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6649860	6649860	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:6649860C>A	ENST00000299441.3	-	13	5774	c.5363G>T	c.(5362-5364)cGc>cTc	p.R1788L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1788	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTAGGATGCGGTACTGCAA	0.577000													8	50					0.000157383	0.000183614	1	1	0
HYDIN	54768	broad.mit.edu	37	16	71007821	71007821	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:71007821C>T	ENST00000393567.2	-	34	5290	c.5140G>A	c.(5140-5142)Gga>Aga	p.G1714R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1714										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)				AGGCACTGTCCACACTGAATT	0.488000													9	82					0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203465316	203465316	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:203465316C>A	ENST00000367222.2	+	2	299	c.183C>A	c.(181-183)gaC>gaA	p.D61E		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	61						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGTCATTGACCTGAGCAACT	0.527000													7	65					0.000157383	0.000183614	1	1	0
C16orf58	64755	broad.mit.edu	37	16	31503523	31503523	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:31503523C>A	ENST00000327237.2	-	11	1265	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L	C16orf58_ENST00000567994.1_Missense_Mutation_p.R364L|C16orf58_ENST00000570164.1_Missense_Mutation_p.R407L			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	409						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CTTACCTGCCCGCACCCGGTT	0.597000													15	47					1.3612e-06	1.77031e-06	1	1	0
PIGO	84720	broad.mit.edu	37	9	35092168	35092168	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:35092168G>T	ENST00000378617.3	-	7	2110	c.1716C>A	c.(1714-1716)gcC>gcA	p.A572A	PIGO_ENST00000341666.3_Silent_p.A572A|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	572					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGAAGGGGGTGGCCCTGGCCT	0.567000													8	62					5.18039e-06	6.52346e-06	1	1	0
PWP1	11137	broad.mit.edu	37	12	108105911	108105911	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:108105911G>A	ENST00000412830.3	+	15	1588	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PWP1_ENST00000541166.1_Missense_Mutation_p.E412K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	474					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGAAGACGAGAGAGGCTTGT	0.368000													8	104					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188117	140188117	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:140188117A>T	ENST00000530339.1	+	1	1345	c.1345A>T	c.(1345-1347)Aac>Tac	p.N449Y	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.N449Y|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.N449Y	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGATGTGAACGACAACGC	0.642000													23	132					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236006	42236006	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:42236006C>A	ENST00000541110.1	-	5	1891	c.1323G>T	c.(1321-1323)ctG>ctT	p.L441L	TRERF1_ENST00000372917.4_Silent_p.L441L|TRERF1_ENST00000372922.4_Silent_p.L441L|TRERF1_ENST00000340840.2_Silent_p.L441L|TRERF1_ENST00000354325.2_Silent_p.L441L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	441	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGACCCGGGTCAGATCTGAGC	0.632000													22	53					0.000295444	0.000338056	1	1	0
CYP11B1	1584	broad.mit.edu	37	8	143956497	143956497	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:143956497G>C	ENST00000292427.4	-	8	1306	c.1274C>G	c.(1273-1275)cCc>cGc	p.P425R	CYP11B1_ENST00000377675.3_Missense_Mutation_p.P496R|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	425					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCAGCGCTGGGGGTTATAGCG	0.647000									Familial Hyperaldosteronism type I				6	103					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32554781	32554781	+	Silent	SNP	G	G	T	rs141677639		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr21:32554781G>T	ENST00000286827.3	-	16	3315	c.2844C>A	c.(2842-2844)gcC>gcA	p.A948A	TIAM1_ENST00000541036.1_Silent_p.A888A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	948					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAGGTCGGCAGGGCCGT	0.677000													6	41					0.00116845	0.00128152	1	1	0
TMEM135	65084	broad.mit.edu	37	11	87013415	87013415	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:87013415G>T	ENST00000340353.7	+	7	765	c.563G>T	c.(562-564)aGa>aTa	p.R188I	TMEM135_ENST00000535167.1_Missense_Mutation_p.R71I|TMEM135_ENST00000532959.1_Missense_Mutation_p.R81I|TMEM135_ENST00000305494.5_Missense_Mutation_p.R210I	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	210						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAACAAAAGAGAGAGCAACAT	0.383000													10	86					0.000673444	0.000750724	1	1	0
ACTA2	59	broad.mit.edu	37	10	90707082	90707082	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:90707082C>G	ENST00000458208.1	-	3	665	c.191G>C	c.(190-192)aGa>aCa	p.R64T	ACTA2_ENST00000224784.6_Missense_Mutation_p.R64T|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	64					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CAGGATTCCTCTTTTGCTCTG	0.502000													22	122					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94185027	94185027	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:94185027G>T	ENST00000297273.4	+	18	2638	c.2351G>T	c.(2350-2352)gGa>gTa	p.G784V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	784						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTTTTTGTGGACTCCTCATC	0.333000													8	98					0.27861	0.279197	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48611943	48611943	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:48611943G>A	ENST00000328333.8	-	78	6541	c.6434C>T	c.(6433-6435)cCg>cTg	p.P2145L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2113L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2145	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGACCCCTCGGTCCAGGCTC	0.622000													9	41					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280388	68280388	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:68280388G>T	ENST00000433211.1	-	11	1692	c.1518C>A	c.(1516-1518)ttC>ttA	p.F506L	CTNNA3_ENST00000373744.4_Missense_Mutation_p.F506L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	506					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATACAGCAAGGAAGTCATCAA	0.363000													10	69					3.86212e-05	4.63065e-05	1	1	0
ZNF749	388567	broad.mit.edu	37	19	57953309	57953309	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:57953309C>T	ENST00000334181.4	+	2	322	c.72C>T	c.(70-72)atC>atT	p.I24I	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AATGGGGGATCCTTAATGATG	0.428000													7	173					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78143520	78143520	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:78143520C>T	ENST00000535157.1	+	8	583	c.413C>T	c.(412-414)tCa>tTa	p.S138L	SCEL_ENST00000377246.3_Missense_Mutation_p.S138L|SCEL_ENST00000349847.3_Missense_Mutation_p.S138L	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	138					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CCTGGCGGTTCATTGAATGCC	0.408000													9	50					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53535774	53535774	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:53535774G>T	ENST00000371500.3	+	4	675	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.G131C|PODN_ENST00000312553.5_Missense_Mutation_p.G131C	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	83					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGTGGACTGTGGCGGTATTGA	0.682000													18	41					2.94398e-08	4.03843e-08	1	1	0
ANK2	287	broad.mit.edu	37	4	114286286	114286286	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:114286286C>A	ENST00000357077.4	+	41	11033	c.10980C>A	c.(10978-10980)atC>atA	p.I3660I	ANK2_ENST00000510275.2_Silent_p.I227I|ANK2_ENST00000509550.1_Silent_p.I751I|ANK2_ENST00000394537.3_Silent_p.I1575I|ANK2_ENST00000506722.1_Silent_p.I1566I|ANK2_ENST00000264366.6_Silent_p.I3627I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3627					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)		AGGAGCGCATCAGTCATAGTT	0.438000													9	110					0.000274275	0.00031459	1	1	0
WASF3	10810	broad.mit.edu	37	13	27246096	27246096	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:27246096A>T	ENST00000361042.4	+	6	735	c.510A>T	c.(508-510)gaA>gaT	p.E170D	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.E170D			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	170					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGGACACAGAAGACAAAAGGA	0.353000													9	44					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976289	166976289	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:166976289A>G	ENST00000061240.2	+	13	2233	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	TLL1_ENST00000507499.1_Missense_Mutation_p.N552S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	529	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACCAGTGAAAATAGCCCTTTG	0.368000													6	70					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185278	127185278	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:127185278C>A	ENST00000371124.3	-	1	1104	c.908G>T	c.(907-909)gGc>gTc	p.G303V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	303						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGAGTGGTGCCCCCGGAGAG	0.502000													9	147					0.000274275	0.00031459	1	1	0
CEP104	9731	broad.mit.edu	37	1	3742390	3742390	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:3742390C>T	ENST00000378230.3	-	18	2620	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	766						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AGACCTTCCTCTGTGAAGGAT	0.488000													5	78					0	0	1	0	0
SLC25A43	203427	broad.mit.edu	37	X	118540465	118540465	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:118540465G>A	ENST00000217909.7	+	2	662	c.318G>A	c.(316-318)caG>caA	p.Q106Q	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Silent_p.Q106Q	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	106					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						ACATTTCCCAGTGGAGCTCCA	0.478000													13	122					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31661314	31661314	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:31661314G>C	ENST00000295770.2	+	9	1528	c.1319G>C	c.(1318-1320)aGa>aCa	p.R440T	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	440					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AACGATGAAAGAGTATTTGGT	0.308000													4	68					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1535125	1535125	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:1535125C>A	ENST00000389470.4	-	14	2159	c.2160G>T	c.(2158-2160)tgG>tgT	p.W720C	INTS1_ENST00000404767.3_Missense_Mutation_p.W592C			Q8N201	INT1_HUMAN	integrator complex subunit 1	592					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGTGTGGAGCCACCAGACGG	0.627000													9	23					0.000442599	0.000504013	1	1	0
ESYT1	23344	broad.mit.edu	37	12	56536482	56536482	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:56536482C>A	ENST00000394048.5	+	26	3118	c.2854C>A	c.(2854-2856)Cca>Aca	p.P952T	ESYT1_ENST00000267113.4_Missense_Mutation_p.P962T|ESYT1_ENST00000541590.1_Missense_Mutation_p.P962T|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	952						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTCCTCAGCCCCAGAGCTCCG	0.562000													12	76					1.49906e-05	1.8438e-05	1	1	0
USP19	10869	broad.mit.edu	37	3	49155487	49155487	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:49155487G>A	ENST00000453664.1	-	3	509	c.191C>T	c.(190-192)tCa>tTa	p.S64L	USP19_ENST00000398898.2_Intron|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000434032.2_Missense_Mutation_p.S64L|USP19_ENST00000417901.1_Missense_Mutation_p.S64L|USP19_ENST00000398888.2_Missense_Mutation_p.S64L|USP19_ENST00000398892.3_Intron	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	64					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		atgggaggctgaggcagaagg	0.522000													4	31					0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26505906	26505906	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:26505906C>A	ENST00000317799.5	+	12	1152	c.1048C>A	c.(1048-1050)Caa>Aaa	p.Q350K	HADHB_ENST00000545822.1_Missense_Mutation_p.Q328K|HADHB_ENST00000537713.1_Missense_Mutation_p.Q335K|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.Q227K	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	350					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAAAAGATCAACTATTACT	0.308000													11	82					0.010729	0.0112242	1	1	0
CA5BP1	340591	broad.mit.edu	37	X	15706830	15706830	+	RNA	SNP	C	C	A	rs4060	by1000genomes	TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:15706830C>A	ENST00000380334.2	+	0	74																											GGGGCGATCGCCAGTCACCCA	0.532000													4	35					0.00116845	0.00128152	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43822162	43822162	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:43822162T>A	ENST00000389420.3	-	26	3826	c.3827A>T	c.(3826-3828)cAg>cTg	p.Q1276L	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q394L|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q1276L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1276						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)		ATAGCTTGGCTGCACAGGGGA	0.468000													9	46					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563660	176563660	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:176563660G>T	ENST00000367662.3	+	3	2084	c.919_splice	c.e3-1	p.G307_splice	PAPPA2_ENST00000367661.3_Splice_Site_p.G307_splice	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	307					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTCCCAGGTGTGTTTGAT	0.502000													3	31					0.00909568	0.00955749	1	1	0
TBX3	6926	broad.mit.edu	37	12	115120681	115120681	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:115120681C>A	ENST00000349155.2	-	1	1288	c.325G>T	c.(325-327)Gct>Tct	p.A109S	TBX3_ENST00000257566.3_Missense_Mutation_p.A109S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	109					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGTTCTTTAGCCTCCAGGTGC	0.592000													17	56					3.52763e-06	4.47774e-06	1	1	0
DISP1	84976	broad.mit.edu	37	1	223164061	223164061	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:223164061G>A	ENST00000284476.6	+	4	798	c.634G>A	c.(634-636)Gag>Aag	p.E212K	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	212					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATTAGTGCCAGAGCTCCCTGA	0.433000													26	118					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64960397	64960397	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:64960397G>T	ENST00000399262.2	-	11	5333	c.5115C>A	c.(5113-5115)gtC>gtA	p.V1705V	JMJD1C_ENST00000402544.1_Silent_p.V1486V|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Silent_p.V1523V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1705					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCAGCTTCTTGACTTTACGCC	0.388000													6	46					0.00198382	0.00214613	1	1	0
ACTN3	89	broad.mit.edu	37	11	66325225	66325225	+	RNA	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:66325225C>A	ENST00000502692.1	+	0	1198				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GTGGGTGAGCCCAGCATGAGT	0.627000													4	18					0.184627	0.186192	1	1	0
PGR	5241	broad.mit.edu	37	11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	762	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CATCCTAGACCAAACACCATT	0.348000													11	80					1.08611e-07	1.4563e-07	1	1	0
DNTTIP1	116092	broad.mit.edu	37	20	44429749	44429749	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:44429749C>T	ENST00000372622.3	+	5	477	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	137						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AAAAGTAATACCCAGATTGAC	0.468000													24	175					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222982	140222982	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:140222982G>T	ENST00000531613.1	+	1	2076	c.2076G>T	c.(2074-2076)gcG>gcT	p.A692A	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A692A|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAGCGGCGCTGGTGGATG	0.642000													23	41					1.1804e-14	1.87916e-14	1	1	0
GBF1	8729	broad.mit.edu	37	10	104128006	104128006	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:104128006A>G	ENST00000369983.3	+	22	2931	c.2671A>G	c.(2671-2673)Aca>Gca	p.T891A		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	891					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGAGGAGCAGACAGGCTTGGT	0.512000													16	97					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946509	46946509	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:46946509G>T	ENST00000429979.1	-	3	706	c.102C>A	c.(100-102)aaC>aaA	p.N34K	KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.N34K|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.N34K|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.N34K|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.N34K|KIAA0226L_ENST00000480935.1_Intron	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	34										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GATGGTCAGTGTTCAGGAGTC	0.527000													5	28					0.000602214	0.000676071	1	1	0
DSPP	1834	broad.mit.edu	37	4	88532074	88532074	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:88532074C>T	ENST00000399271.1	+	2	134	c.14C>T	c.(13-15)aCa>aTa	p.T5I	DSPP_ENST00000282478.7_Missense_Mutation_p.T5I|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	5					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGATAATTACATATTTTTGC	0.294000													7	58					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148760062	148760062	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:148760062C>A	ENST00000310053.5	-	19	2281	c.2088G>T	c.(2086-2088)ggG>ggT	p.G696G	HLTF_ENST00000494055.1_Silent_p.G696G|HLTF_ENST00000465259.1_Silent_p.G695G|HLTF_ENST00000392912.2_Silent_p.G696G	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	696					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCAGGACAGTCCCTTCATTAA	0.358000													12	37					0.0809354	0.0830285	1	1	0
PAK7	57144	broad.mit.edu	37	20	9561436	9561436	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:9561436C>A	ENST00000378429.3	-	5	892	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	PAK7_ENST00000353224.5_Missense_Mutation_p.G116C|PAK7_ENST00000378423.1_Missense_Mutation_p.G116C	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	116	Linker.						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)			TGGCCTGGACCGTGGCTGGAG	0.542000													55	123					1.19403e-26	2.08191e-26	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862664	5862664	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:5862664A>T	ENST00000329322.5	-	1	463	c.464T>A	c.(463-465)tTg>tAg	p.L155*	OR52E6_ENST00000379946.2_Nonsense_Mutation_p.L159*|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCATGTACAAGCTCCTCAG	0.483000													29	165					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118439530	118439530	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:118439530T>C	ENST00000369443.4	-	8	1127	c.878A>G	c.(877-879)gAt>gGt	p.D293G	GDAP2_ENST00000369442.3_Missense_Mutation_p.D293G|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	293										kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CTTGTCAATATCTCCTTCCAT	0.423000													13	101					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947889	68947889	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:68947889C>A	ENST00000456315.2	-	8	1716	c.1602G>T	c.(1600-1602)atG>atT	p.M534I	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	534					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CATTTGGTTTCATGATAATTT	0.383000													59	139					5.5144e-22	9.51035e-22	1	1	0
LHX9	56956	broad.mit.edu	37	1	197890471	197890471	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:197890471G>A	ENST00000367390.3	+	4	415	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	LHX9_ENST00000367387.4_Missense_Mutation_p.G139S|LHX9_ENST00000561173.1_Missense_Mutation_p.G145S|LHX9_ENST00000367391.1_Missense_Mutation_p.G130S|LHX9_ENST00000337020.2_Missense_Mutation_p.G139S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	139	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGCCACCTTGGCATTTCCGC	0.587000													11	51					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148048601	148048601	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:148048601T>A	ENST00000370460.2	+	14	3674	c.3195T>A	c.(3193-3195)ttT>ttA	p.F1065L	AFF2_ENST00000370457.5_Missense_Mutation_p.F1030L|AFF2_ENST00000286437.5_Missense_Mutation_p.F706L|AFF2_ENST00000342251.3_Missense_Mutation_p.F1032L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1065					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCACTTTTGATGACTCGT	0.537000													16	227					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35689507	35689507	+	Splice_Site	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:35689507C>G	ENST00000373664.3	-	9	1315	c.1250_splice	c.e9+1	p.E417_splice	RBL1_ENST00000344359.3_Splice_Site_p.E417_splice	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	417	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TGTACATACTCAAAAATATTT	0.338000													9	33					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73140963	73140963	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:73140963C>A	ENST00000541685.1	-	8	868	c.856G>T	c.(856-858)Gac>Tac	p.D286Y	DPF3_ENST00000546183.1_Missense_Mutation_p.D296Y|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.D286Y	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	286					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTCCACAGTCTGCGCAGGAC	0.567000													3	12					6.4e-05	7.57978e-05	1	1	0
FBXO31	79791	broad.mit.edu	37	16	87376482	87376482	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:87376482C>A	ENST00000311635.7	-	5	745		c.e5+1			NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31						cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGTGGGCTCACCTCCTGCCTC	0.567000													3	4					6.4e-05	7.57978e-05	1	1	0
GJC3	349149	broad.mit.edu	37	7	99521172	99521172	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:99521172G>T	ENST00000312891.2	-	2	835	c.836C>A	c.(835-837)gCc>gAc	p.A279D		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	279						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tccaactcaggcatctctggg	0.393000													5	49					0.000602214	0.000676071	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113304771	113304771	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:113304771C>A	ENST00000297405.5	-	55	9027	c.8783G>T	c.(8782-8784)tGc>tTc	p.C2928F	CSMD3_ENST00000352409.3_Missense_Mutation_p.C2858F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2759F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2888F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2928	Sushi 19.					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						TTTACCTTTGCACATAGGTGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	97					1.96292e-10	2.84863e-10	1	1	0
MROH9	80133	broad.mit.edu	37	1	170940947	170940947	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:170940947C>A	ENST00000367759.4	+	8	693	c.539C>A	c.(538-540)tCc>tAc	p.S180Y	MROH9_ENST00000367758.3_Missense_Mutation_p.S180Y	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CTTTTGTGTTCCCATGAAGAT	0.438000													41	270					1.96642e-18	3.27278e-18	1	1	0
KNG1	3827	broad.mit.edu	37	3	186449341	186449341	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:186449341G>T	ENST00000265023.4	+	6	892	c.680G>T	c.(679-681)gGt>gTt	p.G227V	KNG1_ENST00000287611.2_Missense_Mutation_p.G227V|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.G191V	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	227	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CAGGATACCGGTGAATGTACA	0.338000													13	32					9.05144e-12	1.35062e-11	1	1	0
CDRT1	374286	broad.mit.edu	37	17	15522458	15522458	+	Silent	SNP	A	A	G	rs143147928	by1000genomes	TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:15522458A>G	ENST00000395906.3	-	1	368	c.369T>C	c.(367-369)taT>taC	p.Y123Y	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	123										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCGCAAACCAATACAAGATCT	0.458000													4	71					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195960061	195960061	+	Silent	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:195960061C>G	ENST00000296327.5	+	9	1223	c.1014C>G	c.(1012-1014)ctC>ctG	p.L338L	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACTTGAACCTCAAAGCCTAAG	0.433000													20	145					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077469	74077469	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:74077469T>A	ENST00000334586.5	+	6	738	c.655T>A	c.(655-657)Tgc>Agc	p.C219S	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	219					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCTGGTGCCCTGCTTCCAGGT	0.612000													17	192					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143856	56143856	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:56143856G>T	ENST00000302270.1	+	1	757	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CATATTCTATGGGACCCTCAT	0.483000													43	127					6.2361e-21	1.06776e-20	1	1	0
SMYD5	10322	broad.mit.edu	37	2	73441463	73441463	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:73441463G>T	ENST00000389501.4	+	1	114	c.69G>T	c.(67-69)gtG>gtT	p.V23V		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	23							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGGTCTCCGTGGAAGTCCGTT	0.697000													18	147					5.01169e-05	5.99389e-05	1	1	0
FBXL20	84961	broad.mit.edu	37	17	37441767	37441767	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:37441767C>A	ENST00000264658.6	-	7	718	c.458G>T	c.(457-459)tGt>tTt	p.C153F	FBXL20_ENST00000577399.1_Missense_Mutation_p.C155F|FBXL20_ENST00000583610.1_Missense_Mutation_p.C153F|FBXL20_ENST00000394294.3_Intron	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	153						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TATTGATGTACAGGAAGCCAA	0.299000													8	46					5.18039e-06	6.52346e-06	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912897	77912897	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:77912897T>A	ENST00000321110.1	-	2	1316	c.1021A>T	c.(1021-1023)Acc>Tcc	p.T341S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	341							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGGAAGTGGGTTGCTACATGA	0.453000													12	39					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248864	20248864	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:20248864G>T	ENST00000315957.4	+	1	464	c.383G>T	c.(382-384)cGa>cTa	p.R128L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTATCTGCCGACCCCTCCAC	0.512000													72	494					1.48005e-37	2.62874e-37	1	1	0
OR10Q1	219960	broad.mit.edu	37	11	57996176	57996176	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:57996176T>A	ENST00000316770.2	-	1	214	c.172A>T	c.(172-174)Acc>Tcc	p.T58S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGCGGAGGGTGCTGTGTGTG	0.512000													30	136					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598074	68598074	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:68598074A>T	ENST00000570495.1	+	5	1676	c.1384A>T	c.(1384-1386)Att>Ttt	p.I462F	RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.I462F|ZFP90_ENST00000563169.2_Missense_Mutation_p.I462F			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	462					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTTAGTCACATTACAGACTT	0.428000													54	158					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605871	101605871	+	Silent	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr15:101605871T>C	ENST00000284395.5	+	33	5620	c.5220T>C	c.(5218-5220)tcT>tcC	p.S1740S	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.S1743S|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1743					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGCAGCTCTGAGGGCAGAG	0.622000													19	39					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73072468	73072468	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:73072468G>T	ENST00000545377.1	+	6	963	c.787G>T	c.(787-789)Gca>Tca	p.A263S	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A263S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A263S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A263S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A263S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.A263S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TTTGTTGGAGGCAGATATTAA	0.458000													23	162					1.10513e-12	1.69691e-12	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142566381	142566381	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:142566381G>A	ENST00000392957.2	+	15	2957	c.2170G>A	c.(2170-2172)Ggt>Agt	p.G724S	EPHB6_ENST00000411471.2_Missense_Mutation_p.G447S|EPHB6_ENST00000442129.1_Missense_Mutation_p.G724S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	724	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGCAGTGCTGGGTCAGTTCCA	0.687000													8	30					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186342	5186342	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:5186342A>T	ENST00000274181.7	+	5	1079	c.941A>T	c.(940-942)tAc>tTc	p.Y314F	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.Y314F	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	314	Peptidase M12B.				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						ATCACCACCTACGTGCTCACG	0.478000													35	54					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20432684	20432684	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:20432684C>A	ENST00000331849.4	+	5	875	c.728C>A	c.(727-729)tCc>tAc	p.S243Y		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	243					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						GTCGAGCACTCCCAGAGCAGC	0.582000													5	34					0.000602214	0.000676071	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90816139	90816139	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:90816139T>A	ENST00000394980.1	+	2	336	c.17T>A	c.(16-18)tTa>tAa	p.L6*	MMRN1_ENST00000264790.2_Nonsense_Mutation_p.L6*|MMRN1_ENST00000394981.1_Nonsense_Mutation_p.L6*			Q13201	MMRN1_HUMAN	multimerin 1	6					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGGGCAAGATTATTTGTCCTT	0.428000													24	78					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156220781	156220781	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:156220781G>A	ENST00000361813.5	-	21	2979	c.2835C>T	c.(2833-2835)ctC>ctT	p.L945L	SMG5_ENST00000476954.1_5'UTR|SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	945	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGATCTTATAGAGAGTCCTGG	0.612000													8	88					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118479397	118479397	+	Silent	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:118479397A>T	ENST00000349139.4	+	4	434	c.387A>T	c.(385-387)acA>acT	p.T129T	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	129						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTAGGACACAGATATTATTG	0.353000													6	41					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756777	139756777	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:139756777C>T	ENST00000263549.3	-	3	1512	c.639G>A	c.(637-639)ttG>ttA	p.L213L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	213						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGCTCATACCCAACTTCTCCA	0.448000													29	142					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	65225295	65225295	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:65225295C>A	ENST00000399262.2	-	1	346	c.128G>T	c.(127-129)cGa>cTa	p.R43L	JMJD1C_ENST00000399251.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	43					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGACACGGCTCGGATGACCCC	0.701000													9	8					1.76689e-08	2.4378e-08	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22382499	22382499	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr15:22382499G>T	ENST00000328795.4	+	1	118	c.27G>T	c.(25-27)gtG>gtT	p.V9V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACACAGTAGTGACAGAATTTA	0.348000													30	168					2.68265e-12	4.07969e-12	1	1	0
SORL1	6653	broad.mit.edu	37	11	121461782	121461782	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:121461782G>T	ENST00000260197.7	+	31	4415	c.4286G>T	c.(4285-4287)gGg>gTg	p.G1429V	SORL1_ENST00000525532.1_Missense_Mutation_p.G373V|SORL1_ENST00000527934.1_Missense_Mutation_p.G44V|SORL1_ENST00000534286.1_Missense_Mutation_p.G339V|SORL1_ENST00000532694.1_Missense_Mutation_p.G275V	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1429	LDL-receptor class A 9.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCAGCAGTGGGACCTGCGTG	0.577000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	77	128					6.30617e-38	1.12425e-37	1	1	0
TMEM65	157378	broad.mit.edu	37	8	125343017	125343017	+	Silent	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:125343017T>A	ENST00000297632.6	-	2	855	c.321A>T	c.(319-321)ccA>ccT	p.P107P		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	107						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGTGGGTGGTGGAGCTTCCA	0.358000													17	52					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66509147	66509147	+	Splice_Site	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:66509147T>A	ENST00000273854.3	-	2	782		c.e2-2		EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000511294.1_Splice_Site	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATAAATTCACTGAAAAGAAAA	0.299000										TSP Lung(17;0.13)			10	43					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108714369	108714369	+	Silent	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:108714369A>G	ENST00000361189.2	-	4	1058	c.819T>C	c.(817-819)acT>acC	p.T273T	PJA2_ENST00000361557.3_Silent_p.T273T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	273					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTTCCTGGCTAGTATTATTTT	0.403000													26	98					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													7	38					0	0	1	0	0
MIR892B	100126307	broad.mit.edu	37	X	145078767	145078767	+	RNA	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:145078767G>T	ENST00000401279.1	-	0	25					NR_030593.1																						CTACATAAATGGCACCTTTCT	0.502000													4	15					0.000602214	0.000676071	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39851196	39851196	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:39851196C>G	ENST00000303538.8	-	27	3702	c.3163G>C	c.(3163-3165)Gag>Cag	p.E1055Q		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1055					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGATGTTCTCTGCCATCTTC	0.368000													5	48					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062139	216062139	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:216062139A>T	ENST00000366943.2	-	41	8238	c.7852T>A	c.(7852-7854)Tgg>Agg	p.W2618R	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2618R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2618	Fibronectin type-III 12.				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)		GGGAGTGTCCATACAGTCTGG	0.498000										HNSCC(13;0.011)			8	81					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371219	48371219	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:48371219C>T	ENST00000395702.2	+	2	914	c.687C>T	c.(685-687)ctC>ctT	p.L229L	ZNF488_ENST00000586537.1_Silent_p.L122L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						ATGCTCCACTCTGTAGCACTT	0.557000													13	65					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258733	56258733	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:56258733C>A	ENST00000327216.2	-	1	138	c.114G>T	c.(112-114)gtG>gtT	p.V38V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGTTCCCTGCCACCGTGACCA	0.527000													19	164					0.000132079	0.000154851	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75848594	75848594	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:75848594C>A	ENST00000322507.8	-	28	5350	c.5041G>T	c.(5041-5043)Gat>Tat	p.D1681Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1681Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D517Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1681Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1681	Fibronectin type-III 12.				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						AGAGACACATCTGAAGCTCCA	0.438000													28	81					3.73808e-20	6.33212e-20	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225661686	225661686	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:225661686A>C	ENST00000409592.3	-	43	4917	c.4804T>G	c.(4804-4806)Tta>Gta	p.L1602V	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1608V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1608	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTACTTGTAAGTGGGACCGG	0.438000													16	108					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938618	38938618	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:38938618G>A	ENST00000302328.3	-	14	2319	c.2121C>T	c.(2119-2121)gtC>gtT	p.V707V	SCN11A_ENST00000444237.2_Silent_p.V707V|SCN11A_ENST00000450244.1_Silent_p.V707V|SCN11A_ENST00000456224.3_Silent_p.V707V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	707					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAATGACCAGGACCACAGTCA	0.468000													4	60					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66430075	66430075	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:66430075C>T	ENST00000341529.3	+	8	1479	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	444	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TATAACCTGACTGTGGAGGCC	0.483000													14	87					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47894833	47894833	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:47894833C>A	ENST00000426837.2	-	20	6793	c.6706G>T	c.(6706-6708)Ggt>Tgt	p.G2236C	MAP4_ENST00000383737.4_Missense_Mutation_p.G750C|MAP4_ENST00000264724.11_Missense_Mutation_p.G826C|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.G1091C|MAP4_ENST00000420772.2_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	1091					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCGCTGCCACCGCCCTCAGTC	0.662000													4	20					0.00909568	0.00955749	1	1	0
VHL	7428	broad.mit.edu	37	3	10188296	10188296	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:10188296A>G	ENST00000256474.2	+	2	1279	c.439A>G	c.(439-441)Att>Gtt	p.I147V	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	147	Involved in binding to CCT complex.		I -> T (in pheochromocytoma).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I147fs*12(4)|p.A149fs*25(4)|p.I147fs*27(2)|p.I147fs*13(1)|p.I147fs*25(1)|p.I147fs*26(1)|p.I147_F148del(1)|p.P146fs*23(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGACAGCCTATTTTTGCCAA	0.418000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				16	183					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961624	41961624	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:41961624T>A	ENST00000298919.7	+	9	1115	c.727T>A	c.(727-729)Tta>Ata	p.L243I	PDZRN4_ENST00000539469.2_Missense_Mutation_p.L245I|PDZRN4_ENST00000402685.2_Missense_Mutation_p.L503I			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	503	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAATGAATTCTTAGAGGAGTT	0.398000													13	43					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57971861	57971861	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:57971861A>T	ENST00000455537.2	+	22	2705	c.2431A>T	c.(2431-2433)Aaa>Taa	p.K811*	KIF5A_ENST00000286452.5_Nonsense_Mutation_p.K722*	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	811					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCGAGTCAAGAAAGTGAGTGC	0.547000													18	395					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156012595	156012595	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:156012595C>A	ENST00000368309.3	-	7	1328	c.1236G>T	c.(1234-1236)acG>acT	p.T412T	UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	412						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TCTGGGCAAGCGTCTGCATCA	0.537000													7	54					0.00198382	0.00214613	1	1	0
FAT3	120114	broad.mit.edu	37	11	92523186	92523186	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:92523186G>A	ENST00000298047.6	+	7	4430	c.4413G>A	c.(4411-4413)gaG>gaA	p.E1471E	FAT3_ENST00000409404.2_Silent_p.E1471E|FAT3_ENST00000525166.1_Silent_p.E1321E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1471	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATTTCCGAGGATGTGCTTC	0.423000										TCGA Ovarian(4;0.039)			42	127					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758759	77758759	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:77758759C>T	ENST00000310942.4	+	5	1621	c.1517C>T	c.(1516-1518)aCc>aTc	p.T506I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	506					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTATTTGTCACCGACGTCACT	0.622000													7	50					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014982	127014982	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:127014982T>C	ENST00000393313.1	-	5	999	c.408A>G	c.(406-408)atA>atG	p.I136M	ZNF800_ENST00000265827.3_Missense_Mutation_p.I136M|ZNF800_ENST00000393312.1_Missense_Mutation_p.I136M			Q2TB10	ZN800_HUMAN	zinc finger protein 800	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GATTAGTTTCTATGGGTTCTA	0.353000													10	106					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415198	62415198	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:62415198T>A	ENST00000330574.2	-	2	2406	c.2354A>T	c.(2353-2355)cAc>cTc	p.H785L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	785					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACTGCAGCAGTGAACCAGGAG	0.582000													14	111					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937169	15937169	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:15937169C>A	ENST00000504595.1	+	4	1831	c.1350C>A	c.(1348-1350)gcC>gcA	p.A450A	FBXL7_ENST00000329673.7_Silent_p.A438A|FBXL7_ENST00000510662.1_Silent_p.A403A	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	450					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGATCGTGGCCGCCAACTGCT	0.627000													9	34					0.000442599	0.000504013	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46785064	46785064	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:46785064C>T	ENST00000529230.1	-	29	3700	c.3654G>A	c.(3652-3654)caG>caA	p.Q1218Q	CKAP5_ENST00000354558.3_Silent_p.Q1218Q|CKAP5_ENST00000312055.5_Silent_p.Q1218Q|CKAP5_ENST00000415402.1_Silent_p.Q1218Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1218					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGTTATGATGCTGAAAGTCTG	0.368000													11	54					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271544	59271544	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:59271544C>T	ENST00000313253.1	+	1	496	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	166					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						GTTGCTGCCTCTCCCTTTCTG	0.517000													34	181					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227598	38227598	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:38227598C>A	ENST00000373048.4	-	3	328	c.329G>T	c.(328-330)cGt>cTt	p.R110L	EPHA10_ENST00000319637.6_Missense_Mutation_p.R110L|EPHA10_ENST00000427468.2_Missense_Mutation_p.R110L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	110						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCAGTCACGGAGTGTGAA	0.637000													48	113					2.72333e-11	4.02579e-11	1	1	0
ATL1	51062	broad.mit.edu	37	14	51081230	51081230	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:51081230G>A	ENST00000441560.2	+	9	1343		c.e9+1		ATL1_ENST00000358385.6_Splice_Site|ATL1_ENST00000357032.3_Splice_Site|ATL1_ENST00000354525.4_Splice_Site	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1						axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAATTGAAAGGTTTGTGTCTT	0.338000													4	41					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54871600	54871600	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:54871600C>T	ENST00000333896.5	+	19	4492	c.4107C>T	c.(4105-4107)gcC>gcT	p.A1369A	SPTBN1_ENST00000356805.4_Silent_p.A1382A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1382					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAAACAAGGCCGAACTTTTCA	0.493000													15	93					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595440	55595440	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:55595440C>T	ENST00000378397.1	+	1	746	c.746C>T	c.(745-747)aCt>aTt	p.T249I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACAGCCATCACTGTCTCCCAT	0.493000										HNSCC(27;0.073)			17	165					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148927163	148927163	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:148927163C>T	ENST00000264613.6	-	4	878	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	206	F5/8 type A 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.D206H(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTTCTTTATCTAGAGAATCT	0.289000													10	45					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47342682	47342682	+	Silent	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:47342682A>T	ENST00000426342.1	-	14	2558	c.1812T>A	c.(1810-1812)acT>acA	p.T604T	MDGA2_ENST00000357362.3_Silent_p.T604T|MDGA2_ENST00000399232.2_Silent_p.T902T|MDGA2_ENST00000439988.2_Silent_p.T833T|MDGA2_ENST00000399222.3_Silent_p.T35T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	833	Ig-like 6.				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						AACAATATGCAGTGTTTGTGG	0.383000													16	114					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427727	135427727	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:135427727C>A	ENST00000394143.1	+	6	2153	c.1862C>A	c.(1861-1863)aCt>aAt	p.T621N	GPR112_ENST00000412101.1_Missense_Mutation_p.T416N|GPR112_ENST00000394141.1_Missense_Mutation_p.T416N|GPR112_ENST00000370652.1_Missense_Mutation_p.T621N|GPR112_ENST00000287534.4_Missense_Mutation_p.T558N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	621					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACTTGCTTACTTTGATGTCC	0.483000													6	92					0.00116845	0.00128152	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88329492	88329492	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:88329492G>T	ENST00000325089.6	+	2	2068	c.1849G>T	c.(1849-1851)Gat>Tat	p.D617Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.D376Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	617						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGACTATTCAGATGTAGTAGT	0.602000													27	122					1.5548e-18	2.59679e-18	1	1	0
SPOCK2	9806	broad.mit.edu	37	10	73828004	73828004	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:73828004T>A	ENST00000373109.2	-	6	974	c.530A>T	c.(529-531)gAg>gTg	p.E177V	SPOCK2_ENST00000536168.1_Missense_Mutation_p.E177V|SPOCK2_ENST00000317376.4_Missense_Mutation_p.E177V|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	177	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCAGGGGCCCTCGCATCGCAC	0.662000													7	18					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148712379	148712379	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:148712379G>T	ENST00000296721.4	+	17	2195	c.2097G>T	c.(2095-2097)caG>caT	p.Q699H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.Q699H	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	699							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGCAGCAGTCCCTGGCAG	0.642000													4	10					0.00909568	0.00955749	1	1	0
PITHD1	57095	broad.mit.edu	37	1	24113774	24113774	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:24113774C>T	ENST00000246151.4	+	6	655	c.544C>T	c.(544-546)Cac>Tac	p.H182Y	PITHD1_ENST00000374524.1_Missense_Mutation_p.H69Y	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	182	PITH.									haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						GCTTCGCCGACACGAGGTGAC	0.507000													12	63					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986281	42986281	+	Silent	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:42986281G>C	ENST00000326974.4	+	6	915	c.720G>C	c.(718-720)cgG>cgC	p.R240R	KLHDC3_ENST00000332245.8_Silent_p.R181R|KLHDC3_ENST00000244670.8_Silent_p.R106R	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	240					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGGGGCGCCGGAGCCACTCGG	0.557000													61	122					0	0	1	0	0
RIBC1	158787	broad.mit.edu	37	X	53457659	53457659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:53457659C>T	ENST00000375327.3	+	7	1132	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	RIBC1_ENST00000414955.2_Nonsense_Mutation_p.Q212*	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	327										lung(2)	2						GCTAGAAGAGCAGGAGAGGGA	0.502000													5	20					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16005057	16005057	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:16005057G>C	ENST00000268712.3	-	20	2454	c.2197C>G	c.(2197-2199)Ccc>Gcc	p.P733A	NCOR1_ENST00000395848.1_Missense_Mutation_p.P640A|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.P749A	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	733					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCTCGCTGGGCTTGACAGCT	0.458000													27	43					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521052	39521052	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:39521052A>C	ENST00000251646.3	-	6	1125	c.1076T>G	c.(1075-1077)cTg>cGg	p.L359R		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	359	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCTCTCCAGCAGGCTCCGGTA	0.582000													20	122					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108714367	108714367	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:108714367C>A	ENST00000361189.2	-	4	1060	c.821G>T	c.(820-822)aGc>aTc	p.S274I	PJA2_ENST00000361557.3_Missense_Mutation_p.S274I	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	274					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCTTTCCTGGCTAGTATTATT	0.408000													25	101					7.92952e-12	1.18693e-11	1	1	0
SPTLC3	55304	broad.mit.edu	37	20	13107247	13107247	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:13107247G>T	ENST00000399002.2	+	9	1436	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	SPTLC3_ENST00000378194.4_Missense_Mutation_p.W314C	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	388					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGACCTCGTGGATTATTTACG	0.428000													35	171					6.02846e-25	1.04347e-24	1	1	0
TTN	7273	broad.mit.edu	37	2	179636116	179636116	+	Silent	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:179636116T>C	ENST00000589042.1	-	34	8162	c.7938A>G	c.(7936-7938)ccA>ccG	p.P2646P	TTN_ENST00000342992.6_Silent_p.P2646P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P2600P|TTN_ENST00000460472.2_Silent_p.P2600P|TTN_ENST00000360870.5_Silent_p.P2646P|TTN_ENST00000342175.6_Silent_p.P2600P|TTN_ENST00000591111.1_Silent_p.P2646P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2382	Ig-like 15.						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)			CTTTGGAATCTGGGTTGGCAA	0.483000													25	64					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61446174	61446174	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:61446174G>C	ENST00000261249.6	-	2	826	c.442C>G	c.(442-444)Cat>Gat	p.H148D	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	148						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AAGGAATCATGAGTAAATATT	0.378000													23	183					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73238914	73238914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:73238914C>A	ENST00000245541.6	-	7	823	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	GGA3_ENST00000538886.1_Nonsense_Mutation_p.E81*|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000578348.1_Nonsense_Mutation_p.E81*|GGA3_ENST00000582717.1_Nonsense_Mutation_p.E131*|GGA3_ENST00000582486.1_Nonsense_Mutation_p.E131*|GGA3_ENST00000351904.7_Nonsense_Mutation_p.E170*	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	203	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCACTCACTTCCTTCACCATG	0.577000													15	138					0.132662	0.134642	1	1	0
RP11-383H13.1	0	broad.mit.edu	37	8	72755860	72755860	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:72755860C>G	ENST00000537896.1	+	1	494	c.224C>G	c.(223-225)cCt>cGt	p.P75R	RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000325509.4_Intron																lung(1)	1						CTCCCGAATCCTTGCGCGCCG	0.642000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	37					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611472	56611472	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:56611472G>C	ENST00000407595.2	+	6	2146	c.1644G>C	c.(1642-1644)caG>caC	p.Q548H	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	548										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGAAACCAGTACAAAGGAC	0.418000													22	35					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784263	8784263	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:8784263G>A	ENST00000447110.1	-	18	2578	c.2454C>T	c.(2452-2454)tgC>tgT	p.C818C	PIK3R5_ENST00000581552.1_Silent_p.C818C|PIK3R5_ENST00000584803.1_Silent_p.C817C	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	818					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTGGTCCAGGCACACAGCAA	0.567000													6	67					0	0	1	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326851	89326851	+	RNA	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:89326851G>A	ENST00000483158.1	-	0	208																											GTTGGTACCAGGCTAAGTAGC	0.567000													22	93					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201689	179201689	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:179201689G>T	ENST00000292599.3	+	5	3125	c.2862G>T	c.(2860-2862)ggG>ggT	p.G954G	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	954					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCGGGCGGGGCTGCACTGCA	0.697000													7	34					2.0095e-06	2.57822e-06	1	1	0
C3orf38	285237	broad.mit.edu	37	3	88205656	88205656	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:88205656G>T	ENST00000318887.3	+	3	1171	c.861G>T	c.(859-861)ccG>ccT	p.P287P	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	287					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GAACATTACCGAAACCATCTG	0.383000													17	52					2.23348e-06	2.8579e-06	1	1	0
DDX53	168400	broad.mit.edu	37	X	23018372	23018372	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:23018372C>G	ENST00000327968.5	+	1	286	c.198C>G	c.(196-198)taC>taG	p.Y66*	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	66	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCATTGGTTACAGTGGATCAA	0.433000													10	66					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239160389	239160389	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:239160389G>A	ENST00000254657.3	-	20	3404	c.3125C>T	c.(3124-3126)tCa>tTa	p.S1042L	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1042					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTGTGTGTCTGAGGGTTCATC	0.592000													4	57					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128843	147128843	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:147128843G>C	ENST00000282928.4	+	1	1673	c.944G>C	c.(943-945)cGc>cCc	p.R315P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	315					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTCTTCGCGCGCTCCGAGAAT	0.562000													8	85					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699975	136699975	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:136699975G>T	ENST00000445907.2	+	3	891	c.363G>T	c.(361-363)agG>agT	p.R121S	CHRM2_ENST00000397608.3_Missense_Mutation_p.R121S|CHRM2_ENST00000402486.3_Missense_Mutation_p.R121S|CHRM2_ENST00000320658.5_Missense_Mutation_p.R121S|CHRM2_ENST00000453373.1_Missense_Mutation_p.R121S|CHRM2_ENST00000401861.1_Missense_Mutation_p.R121S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	121					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCTTTGACAGGTACTTCTGTG	0.502000													29	122					2.48779e-11	3.68907e-11	1	1	0
RBMX2	51634	broad.mit.edu	37	X	129546815	129546815	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:129546815G>T	ENST00000305536.6	+	6	1026	c.962G>T	c.(961-963)cGt>cTt	p.R321L		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	321	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).			nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GACCGTTGGCGTCACTGAAGA	0.428000													12	70					6.40141e-05	7.57978e-05	1	1	0
ASPN	54829	broad.mit.edu	37	9	95236999	95236999	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:95236999C>T	ENST00000375544.3	-	2	424	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.E61K|ASPN_ENST00000395538.3_Missense_Mutation_p.E61K|ASPN_ENST00000450139.2_Missense_Mutation_p.E33K	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	61					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CTTCTTGGCTCTCTTGTTGGA	0.378000													14	35					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5746053	5746053	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:5746053C>A	ENST00000381624.3	+	9	848	c.787C>A	c.(787-789)Ctg>Atg	p.L263M	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	263						integral to membrane											TGAGAACAGCCTGTTGTTTTC	0.597000													67	131					9.40535e-28	1.64594e-27	1	1	0
PKP2	5318	broad.mit.edu	37	12	33003756	33003756	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:33003756C>A	ENST00000340811.4	-	5	1430	c.1322G>T	c.(1321-1323)cGg>cTg	p.R441L	PKP2_ENST00000070846.6_Missense_Mutation_p.R441L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	441					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R441Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGAGCAGCCGAGGTACCCC	0.448000													37	53					8.73648e-17	1.43399e-16	1	1	0
MYOC	4653	broad.mit.edu	37	1	171605353	171605353	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:171605353C>T	ENST00000037502.5	-	3	1286	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	409	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTTCCAGATTCTCTGGGTTCA	0.517000													32	130					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613089	179613089	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:179613089G>C	ENST00000360870.5	-	46	14260	c.14038C>G	c.(14038-14040)Caa>Gaa	p.Q4680E	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	795	Ig-like 27.						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)			GAAAGCTCTTGACTGGAAGAA	0.338000													11	181					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010351	27010351	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:27010351G>T	ENST00000314616.6	+	16	2227	c.1944G>T	c.(1942-1944)ctG>ctT	p.L648L	SUPT6H_ENST00000347486.4_Silent_p.L648L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	648					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTAAGGAACTGAGAGATGACC	0.488000													7	69					0.00198382	0.00214613	1	1	0
TRIL	9865	broad.mit.edu	37	7	28997265	28997265	+	RNA	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:28997265A>T	ENST00000322982.3	-	0	669							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										GAGGATGCGCAGCTTGCGCAG	0.667000													6	18					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69965131	69965131	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:69965131T>G	ENST00000299293.2	+	8	839	c.329T>G	c.(328-330)aTa>aGa	p.I110R	FRS2_ENST00000397997.2_Missense_Mutation_p.I110R|FRS2_ENST00000550389.1_Missense_Mutation_p.I110R|FRS2_ENST00000549921.1_Missense_Mutation_p.I110R	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	110	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AATAATAGTATAAATGTGGTG	0.368000											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	201					0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135292129	135292129	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:135292129G>A	ENST00000543669.1	+	6	1499	c.788G>A	c.(787-789)cGc>cAc	p.R263H	FHL1_ENST00000535737.1_Missense_Mutation_p.R263H|FHL1_ENST00000370676.3_3'UTR|FHL1_ENST00000394155.2_3'UTR|FHL1_ENST00000345434.3_3'UTR|FHL1_ENST00000394153.2_Missense_Mutation_p.R263H|FHL1_ENST00000370683.1_Missense_Mutation_p.R279H|FHL1_ENST00000370690.3_Missense_Mutation_p.R263H|FHL1_ENST00000539015.1_Missense_Mutation_p.R292H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	199					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCAACAAGCGCTTTGTTTTC	0.493000													27	186					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66982403	66982403	+	Missense_Mutation	SNP	C	C	A	rs149461702		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:66982403C>A	ENST00000340001.4	-	32	4321	c.4110G>T	c.(4108-4110)gaG>gaT	p.E1370D	ABCA9_ENST00000370732.2_Missense_Mutation_p.E1370D|ABCA9_ENST00000453985.2_Missense_Mutation_p.E1332D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1370	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACAGCGCATTCTCCTGAGGGC	0.542000													24	78					7.87624e-14	1.22519e-13	1	1	0
CCNA1	8900	broad.mit.edu	37	13	37014302	37014302	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:37014302G>T	ENST00000418263.1	+	6	1427	c.1077G>T	c.(1075-1077)agG>agT	p.R359S	CCNA1_ENST00000255465.4_Missense_Mutation_p.R360S|CCNA1_ENST00000440264.1_Missense_Mutation_p.R316S|CCNA1_ENST00000449823.1_Missense_Mutation_p.R316S	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	360					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.R360S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGTGCGTCAGGACTGAGAACC	0.468000													13	77					4.36969e-10	6.28391e-10	1	1	0
SHISA2	387914	broad.mit.edu	37	13	26621084	26621084	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:26621084C>A	ENST00000319420.3	-	2	510	c.455G>T	c.(454-456)aGc>aTc	p.S152I		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	152					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TGGGGCTCGGCTCTGCTGGGG	0.627000													7	37					2.7689e-08	3.80923e-08	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43262416	43262416	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:43262416T>A	ENST00000255226.6	+	20	3511	c.2695T>A	c.(2695-2697)Tac>Aac	p.Y899N	SLC14A2_ENST00000586448.1_Missense_Mutation_p.Y899N|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.Y376N	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	899						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGCATCTACTACCTGTCCCA	0.493000													51	101					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77891036	77891036	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:77891036G>T	ENST00000262198.4	+	3	614	c.159G>T	c.(157-159)tgG>tgT	p.W53C		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	53					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACACATCATGGGGTGATGTTT	0.343000													24	39					2.21704e-12	3.3824e-12	1	1	0
ADAM19	8728	broad.mit.edu	37	5	156997940	156997940	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:156997940G>T	ENST00000257527.4	-	2	221	c.143C>A	c.(142-144)cCt>cAt	p.P48H	ADAM19_ENST00000517905.1_Missense_Mutation_p.P48H|ADAM19_ENST00000394020.1_Missense_Mutation_p.P50H|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	48					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCCACTGAGGTATGATAAG	0.488000													8	71					3.09899e-07	4.09755e-07	1	1	0
NTNG1	22854	broad.mit.edu	37	1	107979309	107979309	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:107979309C>A	ENST00000370068.1	+	7	2124	c.1278C>A	c.(1276-1278)ggC>ggA	p.G426G	NTNG1_ENST00000370073.2_Silent_p.G426G|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Silent_p.G426G|NTNG1_ENST00000370061.3_Silent_p.G392G|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	426	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACCCTTTGGGCTCAATCCATG	0.473000													3	23					0.004672	0.00500872	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156784795	156784795	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:156784795T>A	ENST00000537611.2	-	2	198	c.152A>T	c.(151-153)cAc>cTc	p.H51L	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	51						integral to membrane|plasma membrane											AACAATATTGTGTATCCCATG	0.468000													13	80					0	0	1	0	0
MEIOB	254528	broad.mit.edu	37	16	1891923	1891923	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:1891923A>G	ENST00000412554.2	-	11	1126	c.932T>C	c.(931-933)tTg>tCg	p.L311S	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000452149.2_Missense_Mutation_p.L311S|MEIOB_ENST00000325962.3_Missense_Mutation_p.L311S|MEIOB_ENST00000470044.1_Missense_Mutation_p.L104S|MEIOB_ENST00000397344.3_Missense_Mutation_p.L311S	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		TTCATTCTTCAAAGCTTTTCC	0.313000													8	43					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77991884	77991884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:77991884C>A	ENST00000361507.4	-	2	224	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	GAB2_ENST00000340149.2_Nonsense_Mutation_p.E9*|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	47	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGTAGTATTCCAGAACATCT	0.502000													14	124					0.00244969	0.00264412	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145095506	145095506	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:145095506C>A	ENST00000377470.3	+	3	906	c.804C>A	c.(802-804)gaC>gaA	p.D268E	SPATC1_ENST00000447830.2_Missense_Mutation_p.D268E	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	268										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGACCCAGGACCCAGAGCCTC	0.597000													20	86					2.70639e-06	3.45373e-06	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70853281	70853281	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:70853281G>A	ENST00000333538.5	+	3	1117	c.483G>A	c.(481-483)gtG>gtA	p.V161V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	161	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCATCTTCGTGAACGAGGCCC	0.542000													10	72					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393388	164393388	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:164393388C>A	ENST00000280605.3	-	1	1659	c.1499G>T	c.(1498-1500)cGc>cTc	p.R500L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	500						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GACACCGTGGCGGACCACCTT	0.448000													34	118					8.4185e-14	1.30528e-13	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3240525	3240525	+	Silent	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:3240525T>C	ENST00000217939.6	-	5	3355	c.3201A>G	c.(3199-3201)ctA>ctG	p.L1067L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1067						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCTCCCTGTAGTGTCTGAG	0.463000													17	84					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976806	4976806	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:4976806G>T	ENST00000380371.1	-	1	137	c.138C>A	c.(136-138)acC>acA	p.T46T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAAAAGAATGGTGCCATTTC	0.438000													9	57					3.86212e-05	4.63065e-05	1	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													9	101					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798662	38798662	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:38798662C>A	ENST00000308979.2	-	4	2064	c.1791G>T	c.(1789-1791)gtG>gtT	p.V597V	TLR1_ENST00000502213.2_Silent_p.V597V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	597					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAGGGAGGTCACAGTCACAG	0.532000													86	141					2.36143e-25	4.10234e-25	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7318356	7318356	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:7318356G>T	ENST00000302926.2	+	5	999	c.926G>T	c.(925-927)cGg>cTg	p.R309L	NLGN2_ENST00000575301.1_Missense_Mutation_p.R309L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	309					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AAGTACACGCGGCTGCTGGCA	0.657000													19	35					3.51602e-12	5.33001e-12	1	1	0
CPSF3	51692	broad.mit.edu	37	2	9568905	9568905	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:9568905A>G	ENST00000238112.3	+	2	268	c.62A>G	c.(61-63)cAa>cGa	p.Q21R	CPSF3_ENST00000460593.1_5'UTR	NM_016207.2	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	21					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGAGCTGGGCAAGAAGTAGGA	0.313000													3	28					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877938	130877938	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:130877938C>A	ENST00000357462.5	-	1	244	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	POTEF_ENST00000409914.2_Missense_Mutation_p.D51Y|POTEF_ENST00000361163.4_Missense_Mutation_p.D51Y|POTEF_ENST00000360967.5_Missense_Mutation_p.D51Y			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	51						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATAGCAGAGTCGTCGTGGTCT	0.607000													12	277					7.93312e-07	1.03741e-06	1	1	0
DHX38	9785	broad.mit.edu	37	16	72137632	72137632	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:72137632C>T	ENST00000268482.3	+	13	2278	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	590	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGTGTAGCTGCCATGTCAGTG	0.572000													9	33					0	0	1	0	0
AGPAT6	137964	broad.mit.edu	37	8	41470440	41470440	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:41470440A>C	ENST00000396987.3	+	8	1799	c.872A>C	c.(871-873)gAg>gCg	p.E291A	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	291					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GTCTGGTTTGAGCGCTCGGAA	0.547000											OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	39					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150701674	150701674	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:150701674G>T	ENST00000335244.4	-	9	1242	c.1113C>A	c.(1111-1113)tcC>tcA	p.S371S	SLC36A2_ENST00000521967.1_Silent_p.S371S|SLC36A2_ENST00000450886.1_Silent_p.S95S	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	371					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGACACCCGGGAGATGGCAA	0.547000													11	69					2.27111e-07	3.01128e-07	1	1	0
HPCAL4	51440	broad.mit.edu	37	1	40148235	40148235	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:40148235C>A	ENST00000372844.3	-	4	940	c.549G>T	c.(547-549)ttG>ttT	p.L183F		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	183					central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTGCAGCAGCAACACAATGG	0.552000													9	65					0.000673444	0.000750724	1	1	0
CDC6	990	broad.mit.edu	37	17	38447375	38447375	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:38447375G>C	ENST00000209728.4	+	3	715	c.244G>C	c.(244-246)Gag>Cag	p.E82Q		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	82					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AGGCAAGAAAGAGAATGGTCC	0.413000													15	123					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96262151	96262151	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:96262151T>C	ENST00000272395.2	+	4	845	c.709T>C	c.(709-711)Tgt>Cgt	p.C237R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	237						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						AATGGAAATGTGTCATAAACC	0.413000													8	29					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043634	117043634	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:117043634C>T	ENST00000371876.1	-	4	3264	c.843G>A	c.(841-843)agG>agA	p.R281R	KLHL13_ENST00000262820.3_Silent_p.R332R|KLHL13_ENST00000545703.1_Silent_p.R290R|KLHL13_ENST00000541812.1_Silent_p.R316R|KLHL13_ENST00000371878.1_Silent_p.R281R|KLHL13_ENST00000540167.1_Silent_p.R316R|KLHL13_ENST00000371882.1_Silent_p.R281R|KLHL13_ENST00000539496.1_Silent_p.R335R|KLHL13_ENST00000469946.1_Silent_p.R281R			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	332	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TAATGGCAGTCCTGTCTGACT	0.448000													20	118					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202469339	202469339	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:202469339C>T	ENST00000439140.1	-	2	357	c.313G>A	c.(313-315)Gat>Aat	p.D105N	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D105N|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D105N|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D105N	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	105										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CATACCACATCCCCAAATGGC	0.338000													11	101					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280387	68280387	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:68280387G>T	ENST00000433211.1	-	11	1693	c.1519C>A	c.(1519-1521)Ctt>Att	p.L507I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.L507I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	507					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATACAGCAAGGAAGTCATCA	0.368000													10	68					3.86212e-05	4.63065e-05	1	1	0
POTEF	728378	broad.mit.edu	37	2	130832506	130832506	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:130832506G>T	ENST00000357462.5	-	15	2632	c.2539C>A	c.(2539-2541)Cgt>Agt	p.R847S	POTEF_ENST00000409914.2_Missense_Mutation_p.R847S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	847	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCAGTAGTACGGCCAGAGGTG	0.597000													9	112					5.4927e-09	7.64482e-09	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52080980	52080980	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:52080980A>T	ENST00000354534.5	+	5	769	c.591A>T	c.(589-591)ttA>ttT	p.L197F	SCN8A_ENST00000550891.1_Missense_Mutation_p.L197F|SCN8A_ENST00000545061.1_Missense_Mutation_p.L197F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	197					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGAACTGGTTAGATTTCAGTG	0.423000													10	46					0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59943065	59943065	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:59943065C>G	ENST00000528851.1	-	5	499	c.359G>C	c.(358-360)gGa>gCa	p.G120A	MS4A6A_ENST00000530839.1_Missense_Mutation_p.G120A|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G120A|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G56A|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G120A|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G75A|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G148A|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G148A			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	120						integral to membrane	receptor activity	p.G120V(1)|p.G148V(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAATGCTTCCAACCAGGCT	0.438000													9	60					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119036	3119036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:3119036C>T	ENST00000525643.2	+	7	579	c.247C>T	c.(247-249)Cga>Tga	p.R83*	IL32_ENST00000396890.2_Nonsense_Mutation_p.R129*|IL32_ENST00000440815.3_Nonsense_Mutation_p.R83*|IL32_ENST00000396887.3_Nonsense_Mutation_p.R83*|IL32_ENST00000444393.3_Nonsense_Mutation_p.R83*|IL32_ENST00000534507.1_Nonsense_Mutation_p.R129*|IL32_ENST00000530538.2_Nonsense_Mutation_p.R83*|IL32_ENST00000552936.1_Nonsense_Mutation_p.R107*|IL32_ENST00000528163.2_Nonsense_Mutation_p.R83*|IL32_ENST00000552664.1_Nonsense_Mutation_p.R83*|IL32_ENST00000526464.2_Nonsense_Mutation_p.R83*|IL32_ENST00000552356.1_Nonsense_Mutation_p.R63*|IL32_ENST00000551513.1_Nonsense_Mutation_p.R120*|IL32_ENST00000551122.1_Nonsense_Mutation_p.R83*|IL32_ENST00000382213.3_Nonsense_Mutation_p.R74*|IL32_ENST00000549213.1_Nonsense_Mutation_p.R83*|IL32_ENST00000533097.2_Nonsense_Mutation_p.R83*|IL32_ENST00000548652.1_Nonsense_Mutation_p.R74*|IL32_ENST00000548476.1_Nonsense_Mutation_p.R129*|IL32_ENST00000530890.1_Nonsense_Mutation_p.R63*|IL32_ENST00000529699.1_Nonsense_Mutation_p.R63*|IL32_ENST00000548246.1_Nonsense_Mutation_p.R43*|IL32_ENST00000008180.9_Nonsense_Mutation_p.R63*|IL32_ENST00000529550.1_Nonsense_Mutation_p.R83*|IL32_ENST00000531965.1_Nonsense_Mutation_p.R73*|IL32_ENST00000325568.5_Nonsense_Mutation_p.R83*			P24001	IL32_HUMAN	interleukin 32	129					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						ATTACGGTGCCGAGGCAACAG	0.567000													4	39					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10219063	10219063	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:10219063C>A	ENST00000418404.3	-	28	4094	c.3931G>T	c.(3931-3933)Gcc>Tcc	p.A1311S	MYH13_ENST00000252172.4_Missense_Mutation_p.A1311S|MYH13_ENST00000570743.1_Missense_Mutation_p.A1311S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1311					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGTGAGGGCCTGCTTGCTT	0.507000													9	38					1.12685e-05	1.40047e-05	1	1	0
SMOC1	64093	broad.mit.edu	37	14	70477595	70477595	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:70477595C>A	ENST00000381280.4	+	8	1042	c.789C>A	c.(787-789)caC>caA	p.H263Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.H263Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	263	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGCAATGCCACCAGTCCACTG	0.617000													6	54					8.12818e-05	9.57677e-05	1	1	0
MRGPRF	116535	broad.mit.edu	37	11	68777342	68777342	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:68777342G>A	ENST00000309099.6	-	2	410	c.28C>T	c.(28-30)Cat>Tat	p.H10Y	MRGPRF_ENST00000441623.1_Missense_Mutation_p.H10Y|MRGPRF_ENST00000320913.6_Missense_Mutation_p.H10Y	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	10						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTGCCGGGATGGGCCTCCCAG	0.672000													4	34					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360076	74360076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:74360076G>A	ENST00000377044.4	-	4	1431	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.Q298*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	298						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGAAACTCCTGAAGCCGCCTG	0.498000													13	88					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364772	30364772	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:30364772G>A	ENST00000305596.3	-	5	900	c.725C>T	c.(724-726)cCc>cTc	p.P242L	CD2BP2_ENST00000569466.1_Missense_Mutation_p.P242L	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	242					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TGGGGGTGTGGGATTGTGGGG	0.607000													15	58					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405327	47405327	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:47405327C>A	ENST00000285039.7	-	24	3563	c.3264G>T	c.(3262-3264)atG>atT	p.M1088I	MYO5B_ENST00000324581.6_Missense_Mutation_p.M229I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1088					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTATGATGGTCATTTCATCCC	0.522000													21	44					9.95505e-16	1.60631e-15	1	1	0
SLMO2	51012	broad.mit.edu	37	20	57611530	57611530	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:57611530C>A	ENST00000355937.4	-	5	639	c.461G>T	c.(460-462)aGt>aTt	p.S154I	SLMO2_ENST00000371033.5_Missense_Mutation_p.S124I	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	154	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTTACTTTACTAGCATTTGA	0.443000													14	61					0.000219431	0.000255377	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123225987	123225987	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:123225987G>A	ENST00000264501.4	+	56	9894	c.9521G>A	c.(9520-9522)aGa>aAa	p.R3174K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3174K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3174K			Q2LD37	K1109_HUMAN	KIAA1109	3174					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCATCAATGAGAGCTGTAAGA	0.378000													8	64					0	0	1	0	0
UQCC1	55245	broad.mit.edu	37	20	33981905	33981905	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:33981905C>A	ENST00000397554.1	-	2	129	c.119G>T	c.(118-120)cGc>cTc	p.R40L	UQCC_ENST00000374377.5_Silent_p.S20S|UQCC_ENST00000374380.2_Missense_Mutation_p.R40L|UQCC_ENST00000374384.2_Missense_Mutation_p.R40L|UQCC_ENST00000359226.2_Missense_Mutation_p.R40L|UQCC_ENST00000349714.5_Missense_Mutation_p.R40L|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000542501.1_Missense_Mutation_p.R40L|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000374385.5_Missense_Mutation_p.R40L|UQCC_ENST00000407996.2_Missense_Mutation_p.R40L|UQCC_ENST00000397556.3_5'UTR			Q9NVA1	UQCC_HUMAN		40						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGGGAAGTGCGAGACAGAGC	0.433000													29	100					1.16021e-09	1.64363e-09	1	1	0
SLC6A15	55117	broad.mit.edu	37	12	85285610	85285610	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:85285610C>A	ENST00000450363.3	-	2	748		c.e2+1		SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Splice_Site|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGATTACTTACCGCCCCCATT	0.353000													8	52					0.0381472	0.0394741	1	1	0
PAPL	390928	broad.mit.edu	37	19	39589283	39589283	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:39589283C>T	ENST00000331256.5	+	3	581	c.307C>T	c.(307-309)Cca>Tca	p.P103S	PAPL_ENST00000594229.1_Missense_Mutation_p.P103S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		103						extracellular region	acid phosphatase activity|metal ion binding										CAAGCTGCTGCCAGGGGTTCA	0.637000													9	24					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585873	20585873	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:20585873C>A	ENST00000315543.4	+	1	308	c.308C>A	c.(307-309)aCc>aAc	p.T103N		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTAGATATGACCCTTGCTTCT	0.388000													45	417					1.30475e-32	2.29173e-32	1	1	0
TATDN2	9797	broad.mit.edu	37	3	10320661	10320661	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:10320661C>A	ENST00000287652.4	+	7	3289	c.2238C>A	c.(2236-2238)ctC>ctA	p.L746L	TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.L746L|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	746						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CACTCTCCCTCACCTTGGCTG	0.542000													6	60					3.59834e-05	4.36941e-05	1	1	0
VCAN	1462	broad.mit.edu	37	5	82808082	82808082	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:82808082C>A	ENST00000265077.3	+	6	1474	c.909C>A	c.(907-909)agC>agA	p.S303R	VCAN_ENST00000343200.5_Missense_Mutation_p.S303R|VCAN_ENST00000342785.4_Missense_Mutation_p.S303R|VCAN_ENST00000512590.2_Missense_Mutation_p.S255R|VCAN_ENST00000513984.1_Missense_Mutation_p.S303R|VCAN_ENST00000502527.2_Missense_Mutation_p.S303R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	303	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGGATGCCAGCGTGCGCCACC	0.612000													5	33					4.096e-09	5.7344e-09	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321351	79321351	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:79321351C>T	ENST00000428286.1	-	8	5962	c.4762G>A	c.(4762-4764)Gat>Aat	p.D1588N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1947N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1947					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCAGCTCATCACCAGCAGCA	0.488000													11	109					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99438649	99438649	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:99438649C>A	ENST00000397899.2	-	7	2418	c.2087G>T	c.(2086-2088)aGg>aTg	p.R696M		NM_207362.2	NP_997245.2			KIAA1211-like																		GGCGCCATCCCTGTATTTGAG	0.637000													5	13					3.59834e-05	4.36941e-05	1	1	0
MS4A2	2206	broad.mit.edu	37	11	59860900	59860900	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:59860900G>T	ENST00000278888.3	+	5	508	c.406G>T	c.(406-408)Gcc>Tcc	p.A136S		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	136					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGCAAACACTGCCAGCAGCAT	0.463000													11	71					1.08611e-07	1.4563e-07	1	1	0
ZSCAN2	54993	broad.mit.edu	37	15	85164419	85164419	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr15:85164419G>C	ENST00000448803.2	+	3	1285	c.993G>C	c.(991-993)gaG>gaC	p.E331D	ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E181D|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E331D|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E330D|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	331					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACACAGGAGAGAAACCCTACT	0.562000													24	98					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176079834	176079834	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:176079834A>T	ENST00000298564.10	+	2	327	c.178A>T	c.(178-180)Aac>Tac	p.N60Y	TSPAN17_ENST00000405525.2_Missense_Mutation_p.N126Y|TSPAN17_ENST00000503045.1_Missense_Mutation_p.N103Y|TSPAN17_ENST00000508164.1_Missense_Mutation_p.N126Y|TSPAN17_ENST00000310032.8_Missense_Mutation_p.N126Y|TSPAN17_ENST00000515708.1_Missense_Mutation_p.N126Y			Q96FV3	TSN17_HUMAN	tetraspanin 17	126						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACCAGCTCAACCTCTTCAT	0.532000													24	152					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42949554	42949554	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:42949554C>G	ENST00000350427.4	-	2	1221	c.946G>C	c.(946-948)Gat>Cat	p.D316H	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.D316H|C7orf25_ENST00000431882.2_Missense_Mutation_p.D374H|C7orf25_ENST00000438029.1_Missense_Mutation_p.D316H			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	316										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTAAGGTATCTAAAATAGAC	0.473000													20	123					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23940127	23940127	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:23940127A>T	ENST00000397154.3	+	3	98	c.85A>T	c.(85-87)Act>Tct	p.T29S	NGDN_ENST00000408901.3_Missense_Mutation_p.T29S			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	29					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GATGGCTGTAACTGCACAAGT	0.378000													20	82					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763747	77763747	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:77763747G>A	ENST00000521891.2	+	10	5038	c.4590G>A	c.(4588-4590)acG>acA	p.T1530T	ZFHX4_ENST00000455469.2_Silent_p.T1485T|ZFHX4_ENST00000050961.6_Silent_p.T1485T|ZFHX4_ENST00000518282.1_Silent_p.T1504T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1485						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)			CCAATTTTACGATGGAAAAAT	0.403000										HNSCC(33;0.089)			14	27					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060902	44060902	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:44060902G>T	ENST00000344290.5	+	6	1054	c.732G>T	c.(730-732)cgG>cgT	p.R244R	MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.R244R|MAPT_ENST00000571987.1_Silent_p.R244R|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.R244R|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	244					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AAGATGGGCGGCCTCCCCAGA	0.657000													8	30					1.12685e-05	1.40047e-05	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46946333	46946333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:46946333G>T	ENST00000429979.1	-	3	882	c.278C>A	c.(277-279)tCg>tAg	p.S93*	KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Nonsense_Mutation_p.S93*|KIAA0226L_ENST00000378781.3_Nonsense_Mutation_p.S93*|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.S93*|KIAA0226L_ENST00000378784.4_Nonsense_Mutation_p.S26*|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.S93*|KIAA0226L_ENST00000480935.1_5'UTR	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	93	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CCCGAGGCACGAAGGTGAAGG	0.587000													11	62					1.58986e-06	2.05088e-06	1	1	0
RYR3	6263	broad.mit.edu	37	15	33952542	33952542	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr15:33952542C>A	ENST00000389232.4	+	34	4610	c.4540C>A	c.(4540-4542)Cgt>Agt	p.R1514S	RYR3_ENST00000415757.3_Missense_Mutation_p.R1514S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1514	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGACCGAGCGTGTGAGCGA	0.662000													3	4					0.00909568	0.00955749	1	1	0
ROR1	4919	broad.mit.edu	37	1	64644310	64644310	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:64644310G>A	ENST00000371079.1	+	9	2961	c.2586G>A	c.(2584-2586)tcG>tcA	p.S862S	ROR1_ENST00000545203.1_Silent_p.S313S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	862	Ser/Thr-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAGTGGGTCGACTAGCACTG	0.537000													10	36					0	0	1	0	0
C14orf28	122525	broad.mit.edu	37	14	45374605	45374605	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:45374605A>T	ENST00000325192.3	+	5	1060	c.785A>T	c.(784-786)gAg>gTg	p.E262V	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.E232V	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	262										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTTAACAAAGAGGAACATCAT	0.318000													14	115					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537552	24537552	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:24537552C>A	ENST00000264463.4	-	3	970	c.463G>T	c.(463-465)Gac>Tac	p.D155Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	155	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGCTCATTGTCATTGATATCA	0.393000										HNSCC(23;0.051)			39	162					5.71845e-15	9.19589e-15	1	1	0
VANGL2	57216	broad.mit.edu	37	1	160385651	160385651	+	Silent	SNP	G	G	T	rs138071353		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:160385651G>T	ENST00000368061.2	+	2	498	c.24G>T	c.(22-24)tcG>tcT	p.S8S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	8					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGTACTCGGGCTATTCCT	0.682000													3	24					0.115264	0.117234	1	1	0
NOM1	64434	broad.mit.edu	37	7	156743080	156743080	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:156743080G>C	ENST00000275820.3	+	1	664	c.649G>C	c.(649-651)Gac>Cac	p.D217H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	217	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGACGGTCTTGACTATATTCT	0.567000													16	155					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616047	140616047	+	RNA	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:140616047G>T	ENST00000526308.1	+	0	2110					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCACAGGCTGGTGGTGCTGGT	0.706000													13	95					7.93312e-07	1.03741e-06	1	1	0
SOX3	6658	broad.mit.edu	37	X	139587104	139587104	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:139587104C>A	ENST00000370536.2	-	1	121	c.122G>T	c.(121-123)aGc>aTc	p.S41I		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	41					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CGGAGCGGAGCTTGGGGGCCT	0.687000													6	9					0.00116845	0.00128152	1	1	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739287	46739287	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:46739287C>A	ENST00000306448.4	-	2	1677	c.564G>T	c.(562-564)caG>caT	p.Q188H	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.Q188H	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	188					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTTATTCTCTGATTGCCAC	0.458000													32	123					3.99451e-17	6.60203e-17	1	1	0
ZNF672	79894	broad.mit.edu	37	1	249142776	249142776	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:249142776G>T	ENST00000306562.3	+	4	2049	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGTGGGCACTGCCCTCGTCTT	0.637000													3	8					0.115264	0.117234	1	1	0
PER3	8863	broad.mit.edu	37	1	7848195	7848195	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:7848195G>A	ENST00000377532.3	+	4	705	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	PER3_ENST00000361923.2_Missense_Mutation_p.V161I|PER3_ENST00000377541.1_Missense_Mutation_p.V161I			P56645	PER3_HUMAN	period circadian clock 3	161	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGAAAGATGTCCTGGCGTC	0.453000													45	107					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678008	87678008	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:87678008C>A	ENST00000284262.2	+	2	769	c.527C>A	c.(526-528)gCg>gAg	p.A176E		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	176				A -> P (in Ref. 1; BAB11983).	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AACGGCACGGCGCTGCATCCC	0.711000													22	62					1.87028e-06	2.40609e-06	1	1	0
HDX	139324	broad.mit.edu	37	X	83599266	83599266	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:83599266C>A	ENST00000297977.5	-	6	1763	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I	HDX_ENST00000373177.2_Missense_Mutation_p.S551I|HDX_ENST00000506585.2_Missense_Mutation_p.S493I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	551						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACCTTGAGAGCTTCCTTCAGA	0.383000													8	62					1.58986e-06	2.05088e-06	1	1	0
TBCE	6905	broad.mit.edu	37	1	235577898	235577898	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:235577898G>C	ENST00000543662.1	+	4	442	c.336G>C	c.(334-336)gaG>gaC	p.E112D	TBCE_ENST00000406207.1_Missense_Mutation_p.E112D|TBCE_ENST00000366601.3_Missense_Mutation_p.E112D|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	112					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AACCTGTGGAGACTATCGGTT	0.358000													12	66					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306972	162306972	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:162306972C>G	ENST00000306100.5	-	16	2907	c.2471G>C	c.(2470-2472)cGa>cCa	p.R824P	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.R823P|FSTL5_ENST00000536695.1_Missense_Mutation_p.R823P|FSTL5_ENST00000427802.2_Missense_Mutation_p.R814P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	824						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTTATTGAGTCGTCCATCTAG	0.413000													9	146					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575166	19575166	+	Missense_Mutation	SNP	G	G	T	rs150052786		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:19575166G>T	ENST00000328405.2	+	16	3165	c.2899G>T	c.(2899-2901)Ggg>Tgg	p.G967W		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	967	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCCTCTGTGGGGAGCAGCCC	0.493000													24	141					1.64293e-13	2.53086e-13	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108631806	108631806	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:108631806C>G	ENST00000218006.2	-	15	3159	c.2868G>C	c.(2866-2868)atG>atC	p.M956I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	956	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TATCTAAGGACATGTTTGCAA	0.502000													27	142					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:123512533G>A	ENST00000360772.3	-	5	534	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000475616.1_Silent_p.F52F|MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000359169.1_Silent_p.F52F			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602000													8	31					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206411	6206411	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:6206411C>G	ENST00000262450.3	-	11	1762	c.1663G>C	c.(1663-1665)Gac>Cac	p.D555H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	555					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GAGCCGTAGTCAAAGGGGGGC	0.547000													5	78					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145737669	145737669	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:145737669C>G	ENST00000428558.2	-	19	3135	c.3094G>C	c.(3094-3096)Gag>Cag	p.E1032Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1032					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AAGGCCAGCTCACTGAACTCC	0.652000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				8	59					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11199668	11199668	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:11199668C>A	ENST00000361445.4	-	35	4996	c.4920G>T	c.(4918-4920)cgG>cgT	p.R1640R	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1640	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCACAAGGGACCGCACCATAA	0.502000													19	184					1.67942e-08	2.32384e-08	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805498	54805498	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:54805498C>A	ENST00000306858.7	+	5	1845	c.1729C>A	c.(1729-1731)Cct>Act	p.P577T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	577										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGTGAGACACCTAAAGAGGT	0.443000													18	67					1.15919e-05	1.43691e-05	1	1	0
ABLIM2	84448	broad.mit.edu	37	4	8089932	8089932	+	Translation_Start_Site	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:8089932C>T	ENST00000318888.4	-	0	560				ABLIM2_ENST00000505872.1_Missense_Mutation_p.V140M|ABLIM2_ENST00000407564.3_Missense_Mutation_p.V140M|ABLIM2_ENST00000361581.5_Missense_Mutation_p.V140M|ABLIM2_ENST00000341937.5_Missense_Mutation_p.V140M|ABLIM2_ENST00000296372.8_Missense_Mutation_p.V140M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.V140M|ABLIM2_ENST00000361737.5_Missense_Mutation_p.V140M|ABLIM2_ENST00000428004.2_Missense_Mutation_p.V140M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.V140M|ABLIM2_ENST00000546334.1_Missense_Mutation_p.V140M			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2						axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTGCTGCCCACCGATACGGGC	0.627000													3	26					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123516863	123516863	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:123516863C>A	ENST00000223026.4	+	5	1738	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	HYAL4_ENST00000476325.1_Missense_Mutation_p.A367D	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	367					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGCTACATAGCCAATGTGACC	0.468000													22	114					7.87624e-14	1.22519e-13	1	1	0
IL17F	112744	broad.mit.edu	37	6	52103567	52103567	+	Missense_Mutation	SNP	C	C	A	rs144854652	byFrequency	TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:52103567C>A	ENST00000336123.4	-	2	322	c.215G>T	c.(214-216)cGt>cTt	p.R72L		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	72					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					CTCGATGTTACGTGACATGGA	0.438000													20	35					8.34094e-07	1.08775e-06	1	1	0
GJA8	2703	broad.mit.edu	37	1	147381023	147381023	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:147381023G>T	ENST00000240986.4	+	2	994	c.941G>T	c.(940-942)cGg>cTg	p.R314L	GJA8_ENST00000369235.1_Missense_Mutation_p.R314L	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	314					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACTTGTCCCGGGGCTACCAA	0.632000													11	24					3.86212e-05	4.63065e-05	1	1	0
ERLIN2	11160	broad.mit.edu	37	8	37602261	37602261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:37602261G>A	ENST00000518586.1	+	6	813	c.471G>A	c.(469-471)tgG>tgA	p.W157*	ERLIN2_ENST00000276461.5_Intron|ERLIN2_ENST00000523107.1_Nonsense_Mutation_p.W157*|ERLIN2_ENST00000335171.6_Intron|ERLIN2_ENST00000519638.1_Intron|ERLIN2_ENST00000397228.2_Intron|ERLIN2_ENST00000523887.1_Nonsense_Mutation_p.W157*			O94905	ERLN2_HUMAN	ER lipid raft associated 2	154					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGGTTCCTGGAACCCCGCGT	0.517000													5	30					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359296	64359296	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:64359296C>A	ENST00000377574.1	+	1	1015	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R90S|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R90S|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R90S	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	90			R -> H (in RH; strongly reduced urate transport).		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						CCAGTGCCGCCGCTTCCGCCA	0.672000													9	42					0.00621372	0.00664658	1	1	0
OR5R1	219479	broad.mit.edu	37	11	56185160	56185160	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:56185160G>A	ENST00000312253.1	-	1	548	c.549C>T	c.(547-549)ccC>ccT	p.P183P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGCTAAGAAGGGGAGGTCAT	0.443000													26	113					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42533108	42533108	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:42533108G>T	ENST00000282030.5	+	4	4099	c.3803G>T	c.(3802-3804)gGg>gTg	p.G1268V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1268						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGCAGTGGCGGGGATGGTGGC	0.532000									Schinzel-Giedion syndrome				20	23					1.40151e-16	2.2925e-16	1	1	0
GPR50	9248	broad.mit.edu	37	X	150348992	150348992	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:150348992C>T	ENST00000218316.3	+	2	1006	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	313					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGCTATGCGGCACCCTAT	0.542000													30	179					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098763	11098763	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:11098763A>G	ENST00000304623.8	-	15	2750	c.2561T>C	c.(2560-2562)cTc>cCc	p.L854P	CTNND2_ENST00000511377.1_Missense_Mutation_p.L763P|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000458100.2_Missense_Mutation_p.L421P|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L517P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	854					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						GCACTCAGAGAGCAGTGTGAG	0.542000													10	90					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055640	75055640	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:75055640C>A	ENST00000326665.5	-	12	2069	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	C1orf173_ENST00000420661.2_Missense_Mutation_p.R420S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGAAGATGACCTTCTGGCAC	0.438000													10	85					0.010729	0.0112242	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3187488	3187488	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:3187488G>A	ENST00000400569.3	-	5	1252	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	MYOM1_ENST00000356443.4_Missense_Mutation_p.R307C|MYOM1_ENST00000261606.7_Missense_Mutation_p.R307C			P52179	MYOM1_HUMAN	myomesin 1	307	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle	p.R307S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGTGACACGAGGTTCTGGC	0.438000													10	101					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56204343	56204343	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:56204343G>T	ENST00000411543.2	+	9	2009	c.1462G>T	c.(1462-1464)Gac>Tac	p.D488Y	EPN1_ENST00000270460.6_Missense_Mutation_p.D402Y|EPN1_ENST00000085079.7_Missense_Mutation_p.D376Y	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	402	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CACGGAGCCCGACGAGTTCTC	0.706000													25	68					5.77227e-19	9.67465e-19	1	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250221	140250221	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:140250221G>T	ENST00000398640.2	+	1	1533	c.1533G>T	c.(1531-1533)gcG>gcT	p.A511A	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCACGCGGAGAGCGGCA	0.706000													22	143					6.21321e-17	1.02335e-16	1	1	0
ITIH1	3697	broad.mit.edu	37	3	52825633	52825633	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:52825633C>T	ENST00000273283.2	+	21	2619	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.L723L|ITIH1_ENST00000537050.1_Silent_p.L577L|ITIH1_ENST00000405128.3_Silent_p.L231L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	865	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCGCCGGCTCACGGTCACCA	0.597000													11	64					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73849816	73849816	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:73849816C>T	ENST00000334126.7	-	5	1130	c.904G>A	c.(904-906)Gac>Aac	p.D302N	C2CD3_ENST00000313663.7_Missense_Mutation_p.D302N|C2CD3_ENST00000539061.1_Missense_Mutation_p.D302N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	302						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATGCATGAGTCACTGTGACTC	0.428000													11	107					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584335	8584335	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:8584335C>A	ENST00000382487.4	+	2	1163	c.746C>A	c.(745-747)aCc>aAc	p.T249N	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	249					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCTATTGCGACCTTCCTCATC	0.617000													17	77					5.35267e-07	7.03831e-07	1	1	0
CHRM3	1131	broad.mit.edu	37	1	240071141	240071141	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:240071141C>T	ENST00000255380.4	+	5	1169	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	130					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTACATCATCATGAATCGAT	0.483000													8	53					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413397	65413397	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chrX:65413397G>T	ENST00000519389.1	+	8	1627	c.1448G>T	c.(1447-1449)tGg>tTg	p.W483L	HEPH_ENST00000336279.5_Missense_Mutation_p.W162L|HEPH_ENST00000419594.1_Missense_Mutation_p.W432L|HEPH_ENST00000374727.3_Missense_Mutation_p.W432L|HEPH_ENST00000343002.2_Missense_Mutation_p.W429L|HEPH_ENST00000441993.2_Missense_Mutation_p.W432L			Q9BQS7	HEPH_HUMAN	hephaestin	429	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCACTTACTGGAAAGTGCGA	0.373000													4	39					0.00024832	0.000287592	1	1	0
PTPRA	5786	broad.mit.edu	37	20	2955860	2955860	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:2955860G>A	ENST00000380393.3	+	10	1101		c.e10-1		PTPRA_ENST00000425918.2_Splice_Site|PTPRA_ENST00000216877.6_Intron|PTPRA_ENST00000356147.3_Intron|PTPRA_ENST00000358719.4_Intron|PTPRA_ENST00000318266.5_Intron|PTPRA_ENST00000399903.2_Splice_Site	NM_002836.3	NP_002827.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTATTACACAGGTAATTCTGA	0.353000													7	17					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104643500	104643500	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:104643500C>A	ENST00000315264.7	+	11	4336	c.3958C>A	c.(3958-3960)Ccc>Acc	p.P1320T	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1459T			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1459					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGGCGGCCTCCCCGGGCTGT	0.706000													4	11					0.00909568	0.00955749	1	1	0
AARS	16	broad.mit.edu	37	16	70292121	70292121	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:70292121C>T	ENST00000261772.8	-	15	2136		c.e15-1		AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase						alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TATAGACGGCCTGCCAGACCA	0.587000													3	9					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30190434	30190434	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:30190434C>G	ENST00000261708.4	-	19	1875	c.1738G>C	c.(1738-1740)Gag>Cag	p.E580Q		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	580					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCTGCTGACTCTCCCTGCAAC	0.423000													15	199					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739001	40739001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr20:40739001C>A	ENST00000373198.3	-	24	3527	c.3292G>T	c.(3292-3294)Gaa>Taa	p.E1098*	PTPRT_ENST00000373184.1_Nonsense_Mutation_p.E1086*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.E1075*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.E1085*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.E1076*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.E1066*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.E1079*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1076	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCCAGCTTCCGGGGGGTTG	0.627000													6	44					0.0215528	0.022351	1	1	0
TSHR	7253	broad.mit.edu	37	14	81609461	81609461	+	Silent	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr14:81609461C>T	ENST00000541158.2	+	11	1381	c.1059C>T	c.(1057-1059)taC>taT	p.Y353Y	TSHR_ENST00000298171.2_Silent_p.Y353Y|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	353					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTCATTATTACGTCTTCTTTG	0.448000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						13	72					0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9880791	9880791	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:9880791C>T	ENST00000383820.5	-	8	790	c.789G>A	c.(787-789)atG>atA	p.M263I	RPUSD3_ENST00000433535.2_Missense_Mutation_p.M248I|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	263					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					GGGCAGAGTACATGTGGTCCC	0.587000													22	46					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48383570	48383570	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:48383570C>A	ENST00000380518.3	-	17	1206	c.1042G>T	c.(1042-1044)Ggt>Tgt	p.G348C	COL2A1_ENST00000337299.6_Missense_Mutation_p.G279C	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	348	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTGGCTGACCATCGTTGCCT	0.592000													11	111					2.80697e-09	3.94136e-09	1	1	0
ZKSCAN1	7586	broad.mit.edu	37	7	99630947	99630947	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:99630947G>T	ENST00000324306.6	+	6	1053	c.819G>T	c.(817-819)gaG>gaT	p.E273D	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.E60D|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.E237D	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	273	KRAB.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACAGGAATGAGAACGAGGAGT	0.448000													6	39					0.217242	0.218159	1	1	0
GAN	8139	broad.mit.edu	37	16	81385211	81385211	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr16:81385211C>T	ENST00000248272.3	+	2	353	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	64	BTB.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TATAATCCTCCAAAAGATGAT	0.318000													17	60					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7797466	7797466	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:7797466G>A	ENST00000380358.4	+	7	1136	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	CHD3_ENST00000330494.7_Missense_Mutation_p.E320K|CHD3_ENST00000358181.4_Missense_Mutation_p.E320K	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	320					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCCTGAACCAGAGGCTGAGGA	0.597000													13	88					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520369	179520369	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:179520369G>C	ENST00000367615.4	-	8	1159	c.1091C>G	c.(1090-1092)cCa>cGa	p.P364R	NPHS2_ENST00000367616.4_Missense_Mutation_p.P296R|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGAAGGACTTGGGAAGGGGAG	0.483000													8	94					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838764	100838764	+	Silent	SNP	G	G	A	rs143641343	by1000genomes	TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:100838764G>A	ENST00000369208.3	-	12	2556	c.1774C>T	c.(1774-1776)Ctg>Ttg	p.L592L	SIM1_ENST00000262901.4_Silent_p.L592L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	592	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATGGAAGCCAGTTGGTCTGAG	0.463000													20	73					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64875124	64875124	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:64875124T>A	ENST00000533854.1	+	3	468	c.231T>A	c.(229-231)taT>taA	p.Y77*	CACNG5_ENST00000307139.3_Nonsense_Mutation_p.Y77*|CACNG5_ENST00000169565.3_Nonsense_Mutation_p.Y77*			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	77					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCATAGAATATGTGATGCCCA	0.512000													17	88					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61300518	61300518	+	Silent	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:61300518G>C	ENST00000263846.4	-	4	621	c.294C>G	c.(292-294)acC>acG	p.T98T	SYT7_ENST00000542670.1_Silent_p.T306T|SYT7_ENST00000539008.1_Silent_p.T381T|SYT7_ENST00000535826.1_Silent_p.T217T|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Silent_p.T142T|SYT7_ENST00000540677.1_Silent_p.T173T	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	98						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AACGTGGCTCGGTCCGGCGGT	0.642000													10	78					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478927	14478927	+	RNA	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:14478927C>G	ENST00000581457.1	-	0	981					NR_024076.1																						GTGCCAATATCTGACAGCTGT	0.373000													11	43					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62135179	62135179	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr17:62135179T>A	ENST00000433197.2	-	12	1476	c.1381A>T	c.(1381-1383)Atc>Ttc	p.I461F		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	461					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TAGGTGATGATGAAGGCCACC	0.572000													4	26					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49674891	49674891	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:49674891G>T	ENST00000252826.5	+	8	1041	c.915G>T	c.(913-915)ggG>ggT	p.G305G	TRPM4_ENST00000355712.5_Silent_p.G22G|TRPM4_ENST00000427978.2_Silent_p.G305G|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	305					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGGCTCAGGGGGAGCTGCGG	0.592000													19	56					1.33834e-09	1.89035e-09	1	1	0
ANO4	121601	broad.mit.edu	37	12	101442178	101442178	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:101442178G>T	ENST00000392979.3	+	13	1567	c.1207_splice	c.e13+1	p.W402_splice	ANO4_ENST00000299222.9_Splice_Site_p.W4_splice|ANO4_ENST00000392977.3_Splice_Site_p.W437_splice|ANO4_ENST00000550015.1_Splice_Site_p.W4_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	437						chloride channel complex	chloride channel activity	p.W402C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGCAGTCTGGGGTAAGTGTT	0.373000										HNSCC(74;0.22)			6	42					0.00116845	0.00128152	1	1	0
TUBB4A	10382	broad.mit.edu	37	19	6496096	6496096	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr19:6496096C>A	ENST00000264071.2	-	4	785	c.414G>T	c.(412-414)tcG>tcT	p.S138S	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Silent_p.S138S|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	138					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CACCCCCCAGCGAGTGGGTCA	0.642000													29	57					2.12542e-12	3.25305e-12	1	1	0
MROH9	80133	broad.mit.edu	37	1	170967428	170967428	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:170967428G>A	ENST00000367758.3	+	15	1708	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9																		GAGTTTTGTAGACTGTGAACA	0.393000													7	130					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36880147	36880147	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:36880147G>A	ENST00000429976.2	-	18	5456	c.5209C>T	c.(5209-5211)Cat>Tat	p.H1737Y	TRANK1_ENST00000428977.2_Missense_Mutation_p.H1187Y|TRANK1_ENST00000301807.6_Missense_Mutation_p.H1187Y			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1737					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCAGTGTCATGGGCCAGGGCC	0.473000													3	23					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148927139	148927139	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:148927139C>T	ENST00000264613.6	-	4	902	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	214	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATTCTCGGTCAATATGTTTT	0.328000													7	71					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52879354	52879354	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr15:52879354T>C	ENST00000261844.7	-	11	3023	c.2871A>G	c.(2869-2871)atA>atG	p.I957M	RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.I964M	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	957																	ATACCACTTGTATTGTTCCTG	0.378000													10	74					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82607048	82607048	+	Silent	SNP	G	G	T	rs140801655		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr8:82607048G>T	ENST00000518568.1	-	1	1361	c.160C>A	c.(160-162)Cgg>Agg	p.R54R		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	54						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAATTAGGCCGTTTATTTTCG	0.363000													33	126					8.88839e-20	1.50031e-19	1	1	0
MCF2L	23263	broad.mit.edu	37	13	113563574	113563574	+	Silent	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:113563574G>A	ENST00000397036.1	+	2	185	c.177G>A	c.(175-177)tcG>tcA	p.S59S	MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	799	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGAGGTCTCGGCATCTCGTC	0.587000													17	152					0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33880935	33880935	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:33880935G>C	ENST00000257818.2	-	6	1480	c.651C>G	c.(649-651)atC>atG	p.I217M	LMO2_ENST00000395833.3_Missense_Mutation_p.I148M	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	148					multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCCACTCGTAGATGTCCTGTT	0.507000			T	TRD@	T-ALL								4	71					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54646807	54646807	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:54646807C>T	ENST00000230640.5	+	13	1635	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.P360S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	461	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGGTTTACTTCCTATTTTGAA	0.318000													4	47					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236759172	236759172	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:236759172A>G	ENST00000366582.3	-	7	1031	c.917T>C	c.(916-918)gTg>gCg	p.V306A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V306A|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	306					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGCAGGAGCACTATCAAGCA	0.378000													11	73					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182941210	182941210	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:182941210A>T	ENST00000328913.3	-	20	2522	c.2225T>A	c.(2224-2226)cTg>cAg	p.L742Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.L742Q	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	742	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATTGTGATCCAGTTGGCGCTG	0.373000													11	52					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682446	100682446	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr7:100682446C>A	ENST00000306151.4	+	3	7813	c.7749C>A	c.(7747-7749)acC>acA	p.T2583T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2583	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCACCAAGCCGTTGG	0.473000													57	555					1.38909e-20	2.36146e-20	1	1	0
OR1N1	138883	broad.mit.edu	37	9	125289254	125289254	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr9:125289254C>T	ENST00000304880.2	-	1	318	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTGTCTAGATCACCAAACATC	0.512000													5	47					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			13	20					0.00185496	0.00202514	1	1	0
TSHB	7252	broad.mit.edu	37	1	115576769	115576769	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:115576769G>A	ENST00000256592.1	+	3	406	c.338G>A	c.(337-339)aGt>aAt	p.S113N	TSHB_ENST00000369517.1_Missense_Mutation_p.S113N	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	113					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACTGACTATAGTGACTGCATA	0.393000													23	140					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88532075	88532075	+	Silent	SNP	A	A	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:88532075A>T	ENST00000399271.1	+	2	135	c.15A>T	c.(13-15)acA>acT	p.T5T	DSPP_ENST00000282478.7_Silent_p.T5T|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	5					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGATAATTACATATTTTTGCA	0.294000													7	58					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770378	25770378	+	Silent	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:25770378C>A	ENST00000377905.4	+	4	500	c.381C>A	c.(379-381)ccC>ccA	p.P127P	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	127					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCCAATCCCCAGTGGCTATG	0.493000													36	120					3.11337e-16	5.05791e-16	1	1	0
PGM2	55276	broad.mit.edu	37	4	37848597	37848597	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:37848597G>T	ENST00000381967.4	+	9	1153	c.1053G>T	c.(1051-1053)ctG>ctT	p.L351L	PGM2_ENST00000544359.1_Silent_p.L212L|PGM2_ENST00000537241.1_Silent_p.L191L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	351					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GGGCCCTCCTGGGCTGGTGGC	0.458000													32	124					1.45844e-13	2.25395e-13	1	1	0
ITLN2	142683	broad.mit.edu	37	1	160915034	160915034	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:160915034A>G	ENST00000368029.3	-	8	931	c.874T>C	c.(874-876)Tgt>Cgt	p.C292R	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	292					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGTCCCCACACTGACGGGGT	0.522000													11	38					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43706065	43706065	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr21:43706065G>T	ENST00000398437.1	+	9	1520	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.G323C|ABCG1_ENST00000340588.4_Missense_Mutation_p.G420C|ABCG1_ENST00000347800.2_Missense_Mutation_p.G309C|ABCG1_ENST00000398449.3_Missense_Mutation_p.G312C|ABCG1_ENST00000398457.2_Missense_Mutation_p.G314C|ABCG1_ENST00000361802.2_Missense_Mutation_p.G312C			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	312	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGGGATTTGGGTCTGAACTG	0.502000													27	162					1.33986e-20	2.28593e-20	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70456627	70456627	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr13:70456627C>A	ENST00000377844.4	-	5	1774	c.1014_splice	c.e5-1	p.E339_splice	KLHL1_ENST00000545028.1_Splice_Site_p.E146_splice	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	339					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)		ATTATGTTTTCCTGCAGGGAG	0.353000													10	33					9.70103e-10	1.37841e-09	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124332538	124332538	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr12:124332538G>T	ENST00000409039.3	+	32	5516	c.5491G>T	c.(5491-5493)Gcc>Tcc	p.A1831S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1831	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGGGCCCCCGCCGGCCCAGC	0.532000													23	104					1.9806e-07	2.6408e-07	1	1	0
PGA5	5222	broad.mit.edu	37	11	61015981	61015981	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:61015981G>T	ENST00000312403.5	+	6	932	c.747G>T	c.(745-747)gaG>gaT	p.E249D	PGA4_ENST00000422676.2_Missense_Mutation_p.E249D|PGA5_ENST00000451616.2_Missense_Mutation_p.E95D|CTD-2331C18.5_ENST00000537594.1_RNA	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	249					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						TTACCGTCGAGGGTTACTGGC	0.537000													22	199					1.22574e-08	1.70102e-08	1	1	0
CD226	10666	broad.mit.edu	37	18	67614118	67614118	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr18:67614118C>G	ENST00000280200.4	-	3	502	c.234G>C	c.(232-234)agG>agC	p.R78S	CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R78S|CD226_ENST00000577287.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	78	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AAAAGTAAACCCTCTCAGCAT	0.448000													10	58					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976436	47976436	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:47976436C>A	ENST00000543600.1	-	2	829	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	PTCHD4_ENST00000339488.4_Missense_Mutation_p.G281W			Q6ZW05	CF138_HUMAN	patched domain containing 4	281	SSD.					integral to membrane	hedgehog receptor activity										AAGAAGATCCCTGCTGCTGTG	0.537000													5	27					0.217242	0.218159	1	1	0
ANK2	287	broad.mit.edu	37	4	114203953	114203953	+	Silent	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:114203953G>T	ENST00000357077.4	+	18	2057	c.2004G>T	c.(2002-2004)ctG>ctT	p.L668L	ANK2_ENST00000394537.3_Silent_p.L668L|ANK2_ENST00000506722.1_Silent_p.L647L|ANK2_ENST00000264366.6_Silent_p.L668L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	668					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)		CACTCCATCTGGCCTCGCAGG	0.458000													7	59					0.00198382	0.00214613	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862376	5862376	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr11:5862376G>T	ENST00000329322.5	-	1	751	c.752C>A	c.(751-753)gCc>gAc	p.A251D	OR52E6_ENST00000379946.2_Missense_Mutation_p.A255D|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTAGAAAAGGCTAAGATAAC	0.438000													5	44					0.000602214	0.000676071	1	1	0
ABCC2	1244	broad.mit.edu	37	10	101590192	101590192	+	Splice_Site	SNP	T	T	C			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr10:101590192T>C	ENST00000370449.4	+	20	2860		c.e20+2			NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TAGCCGCAGGTTGGCTATCTA	0.478000													17	82					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048774	175048774	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:175048774G>T	ENST00000239462.4	+	3	828	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	239	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGACTGCAGCGGCCACGGCTT	0.687000													5	15					1.024e-07	1.38867e-07	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103400022	103400022	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:103400022C>A	ENST00000358392.2	-	46	3936	c.3619G>T	c.(3619-3621)Ggt>Tgt	p.G1207C	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1195C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1156C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1079C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1195	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)		CCTATTGGACCAGGAGGTCCA	0.473000													6	52					0.0215528	0.022351	1	1	0
STARD7	56910	broad.mit.edu	37	2	96873971	96873971	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:96873971G>A	ENST00000337288.5	-	1	585	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C		NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	68						mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TGGCCAGGACGGCCGTGCAGC	0.701000													12	41					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123565	34123565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:34123565delG	ENST00000373381.4	-	27	4604	c.4428delC	c.(4426-4428)ccfs	p.P1476fs	CSMD2_ENST00000373380.1_Frame_Shift_Del_p.P349fs|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1436	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGGCGGGCTGGGCTGCCAGA	0.587													29	91	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90180335	90180336	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:90180335_90180336insT	ENST00000370454.4	+	3	2461_2462	c.2206_2207insT	c.(2206-2208)tggfs	p.W736fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	736						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACTCTGAAGATTGGAAAAAAC	0.351													10	68	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													3	3	---	---	---	---					
OR10X1	128367	broad.mit.edu	37	1	158548912	158548912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr1:158548912delG	ENST00000368150.1	-	1	777	c.778delC	c.(778-780)acfs	p.H260fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACGGTGAGGTGGGAGGCACAG	0.473													34	160	---	---	---	---					
RTKN	6242	broad.mit.edu	37	2	74666725	74666725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:74666725delC	ENST00000305557.5	-	2	610	c.25delG	c.(25-27)agfs	p.E9fs	RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron|RTKN_ENST00000233330.6_Intron	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	0					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTCAGGTCCTCCAGGATGTGC	0.582													30	47	---	---	---	---					
SATB2	23314	broad.mit.edu	37	2	200173611	200173611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr2:200173611delG	ENST00000443023.1	-	9	2900	c.1435delC	c.(1435-1437)tcfs	p.L479fs	SATB2_ENST00000417098.1_Frame_Shift_Del_p.L538fs|SATB2_ENST00000260926.5_Frame_Shift_Del_p.L538fs|SATB2_ENST00000457245.1_Frame_Shift_Del_p.L538fs|SATB2_ENST00000428695.1_Frame_Shift_Del_p.L420fs			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	538						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGGTACAGAGGTTTTCCCAG	0.557													25	68	---	---	---	---					
ENTPD3-AS1	285266	broad.mit.edu	37	3	40364254	40364255	+	RNA	DEL	CA	CA	-	rs10606298		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr3:40364254_40364255delCA	ENST00000439293.1	-	0	143																											TGGCTTTATGCACAGTCTCTTC	0.510													5	10	---	---	---	---					
PDCL2	132954	broad.mit.edu	37	4	56435918	56435920	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr4:56435918_56435920delTCT	ENST00000295645.4	-	4	429_431	c.327_329delAGA	c.(325-330)gat>ga	p.ED109del		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	109										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			AACCCACACATCTTCTTCTGCAT	0.276													4	9	---	---	---	---					
CTNND2	1501	broad.mit.edu	37	5	11397223	11397223	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:11397223delG	ENST00000304623.8	-	6	721	c.532delC	c.(532-534)tgfs	p.L178fs	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.L87fs|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.L178fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	178					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						CCCAGGGCCAGGGTCTGGTTG	0.607													23	135	---	---	---	---					
CDH12	1010	broad.mit.edu	37	5	21752278	21752278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:21752278delT	ENST00000382254.1	-	15	3039	c.1953delA	c.(1951-1953)gafs	p.E651fs	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Frame_Shift_Del_p.E651fs|CDH12_ENST00000522262.1_Frame_Shift_Del_p.E611fs	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	651					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTCTGATGTCTTCTTTAGAGG	0.443										HNSCC(59;0.17)			23	112	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33683177	33683177	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:33683177delA	ENST00000504830.1	-	5	1196	c.861delT	c.(859-861)atfs	p.I287fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.I287fs|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	287	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTGCATTGCCAATGCTTGGGT	0.403										HNSCC(64;0.19)			10	62	---	---	---	---					
HK3	3101	broad.mit.edu	37	5	176311060	176311060	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr5:176311060delC	ENST00000292432.5	-	14	2024	c.1933delG	c.(1933-1935)aafs	p.E645fs		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	645	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGATGGCTTCCCGCAACAGA	0.592													19	107	---	---	---	---					
FKBP5	2289	broad.mit.edu	37	6	35544906	35544926	+	In_Frame_Del	DEL	CACTTTCTCAAAGTCACCCTT	CACTTTCTCAAAGTCACCCTT	-	rs139316938		TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:35544906_35544926delCACTTTCTCAAAGTCACCCTT	ENST00000536438.1	-	11	1426_1446	c.1111_1131delAAGGGTGACTTTGAGAAAGTG	c.(1111-1131)del	p.KGDFEKV371del	FKBP5_ENST00000539068.1_In_Frame_Del_p.KGDFEKV371del|FKBP5_ENST00000357266.4_In_Frame_Del_p.KGDFEKV371del|FKBP5_ENST00000540787.1_In_Frame_Del_p.KGDFEKV192del	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	371					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TTACTTCCAGCACTTTCTCAAAGTCACCCTTGGCTGACTCA	0.525													11	149	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41162539	41162547	+	In_Frame_Del	DEL	GTGTGAAAG	GTGTGAAAG	-			TCGA-MP-A4TK-01A-11D-A24P-08	TCGA-MP-A4TK-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac3f2321-6923-42e3-87c2-3f85d8ca24bf	7d70858e-98fa-48a8-b15e-ab7e8d35274d	g.chr6:41162539_41162547delGTGTGAAAG	ENST00000483722.1	-	3	586_594	c.401_409delCTTTCACAC	c.(400-411)cat>c	p.PFTH134del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	134					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGTCCAGATGTGTGAAAGGAATGTTCCT	0.536													11	38	---	---	---	---					
