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
ZNF354A	6940	broad.mit.edu	37	5	178140245	178140245	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:178140245T>A	ENST00000335815.2	-	5	831	c.634A>T	c.(634-636)Aaa>Taa	p.K212*		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	212					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTATAGCGTTTATCTGCTGTA	0.333000													4	167					0	0	1	0	0
GTF2F2	2963	broad.mit.edu	37	13	45781618	45781618	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:45781618G>A	ENST00000340473.6	+	5	505	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	122					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		AGCTGCCAGTGAAAACTACAT	0.383000													18	31					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132306605	132306605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:132306605C>A	ENST00000331898.7	-	5	1311	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	OPCML_ENST00000541867.1_Nonsense_Mutation_p.E245*|OPCML_ENST00000374778.4_Nonsense_Mutation_p.E204*|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Nonsense_Mutation_p.E238*	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	245	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCAGAGGCTTCACAGCTCAGG	0.498000													8	31					0.000442599	0.000452602	1	1	0
LIN7A	8825	broad.mit.edu	37	12	81205408	81205408	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:81205408C>T	ENST00000552864.1	-	5	740	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	180	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TTGACGCTGTCTTTAGCAGCC	0.488000													38	43					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60921847	60921847	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr14:60921847C>T	ENST00000321731.3	-	16	1534	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	459										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCAGGTACTGCATTTCTATTT	0.308000													15	50					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031895	26031895	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:26031895G>A	ENST00000244661.2	-	1	393	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTCTCCGCGAATGCGGCGA	0.478000													42	52					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180651501	180651501	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:180651501C>T	ENST00000367590.4	+	2	273	c.75C>T	c.(73-75)ttC>ttT	p.F25F	XPR1_ENST00000367589.3_Silent_p.F25F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	25	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AATAGGCTTTCAAGGATATGC	0.333000													54	84					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189876462	189876462	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:189876462G>A	ENST00000304636.3	+	51	4533	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E1152K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1455	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGATCAAGAATTTGGTGT	0.398000													20	89					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42847659	42847659	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:42847659C>G	ENST00000334370.4	+	9	2179	c.1544C>G	c.(1543-1545)tCa>tGa	p.S515*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.S515*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	515						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGTCGGTACTCACATGTAGCT	0.627000													21	24					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80647344	80647344	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:80647344T>C	ENST00000458043.2	+	13	1363	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	OTOGL_ENST00000547103.1_Missense_Mutation_p.C453R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAACAAGAATGTACTGAATG	0.388000													17	28					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51778495	51778495	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:51778495C>T	ENST00000251076.5	-	23	5544	c.5257G>A	c.(5257-5259)Gtt>Att	p.V1753I	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.V1117I|DMXL2_ENST00000543779.2_Missense_Mutation_p.V1753I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1753						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGGGCAATAACCATGGCTAGC	0.308000													38	60					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121508958	121508958	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:121508958C>T	ENST00000310864.6	-	11	1305	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.R231Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	364					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTGCAATTCTCGGGAAAGTCT	0.378000													10	162					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408707	130408707	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:130408707G>A	ENST00000370904.1	-	24	4500	c.3590C>T	c.(3589-3591)tCa>tTa	p.S1197L	IGSF1_ENST00000370903.3_Missense_Mutation_p.S1211L|IGSF1_ENST00000361420.3_Missense_Mutation_p.S1206L|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1197L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1206	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCATCCTCTGAAAACTGCTG	0.498000													57	139					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080439	54080439	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:54080439G>A	ENST00000394705.2	-	2	1725	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	485						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTGTTATAGATGCTGTAGT	0.463000													27	186					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100040681	100040681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:100040681G>A	ENST00000258428.3	-	10	1837	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	REV1_ENST00000393445.3_Nonsense_Mutation_p.Q536*|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	537	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAACAGCTTGAAGATTAGGA	0.383000								Direct reversal of damage					12	76					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90455237	90455237	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:90455237G>T	ENST00000369393.3	-	28	4128	c.4013C>A	c.(4012-4014)tCc>tAc	p.S1338Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S1338Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1338					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTTTCTTTGGAGAAAAGAGA	0.358000													56	67					1.95512e-22	2.13823e-22	1	1	0
ZNF174	7727	broad.mit.edu	37	16	3452062	3452062	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:3452062G>C	ENST00000268655.4	+	1	643	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ZNF174_ENST00000571936.1_Missense_Mutation_p.E20Q|ZNF174_ENST00000344823.5_Missense_Mutation_p.E20Q|ZNF174_ENST00000572544.1_Missense_Mutation_p.E20Q|ZNF174_ENST00000575752.1_Missense_Mutation_p.E20Q	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	20					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CTCCAAGCAAGAGAGACACAT	0.483000													31	180					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64577236	64577236	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:64577236C>G	ENST00000337652.1	-	2	849	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	MEN1_ENST00000377316.2_Missense_Mutation_p.E116Q|MEN1_ENST00000443283.1_Missense_Mutation_p.E116Q|MEN1_ENST00000394374.2_Missense_Mutation_p.E116Q|MEN1_ENST00000377321.1_Missense_Mutation_p.E116Q|MEN1_ENST00000312049.6_Missense_Mutation_p.E116Q|MEN1_ENST00000315422.4_Missense_Mutation_p.E116Q|MEN1_ENST00000394376.1_Missense_Mutation_p.E116Q|MEN1_ENST00000377313.1_Missense_Mutation_p.E116Q|MEN1_ENST00000377326.3_Missense_Mutation_p.E116Q	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	116					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R115fs*60(1)|p.G111fs*63(1)|p.S114fs*60(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TTCACCAGCTCACGGCTGGAG	0.602000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				7	31					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153930899	153930899	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:153930899C>T	ENST00000368633.1	-	1	202	c.75G>A	c.(73-75)aaG>aaA	p.K25K	CRTC2_ENST00000368630.3_Silent_p.K25K	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	25					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGCGCAATCTTCTCACTAA	0.677000													11	10					0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44619138	44619138	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:44619138G>A	ENST00000457408.2	-	5	676	c.624C>T	c.(622-624)ctC>ctT	p.L208L	TMED4_ENST00000289577.5_Silent_p.L159L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	208					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGATGCCAGTGAGGATGAGGA	0.522000													32	38					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6984264	6984264	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr9:6984264C>T	ENST00000381309.3	+	10	1779	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	KDM4C_ENST00000536108.1_Missense_Mutation_p.S224L|KDM4C_ENST00000535193.1_Missense_Mutation_p.S427L|KDM4C_ENST00000428870.2_Missense_Mutation_p.S92L|KDM4C_ENST00000543771.1_Missense_Mutation_p.S405L|KDM4C_ENST00000381306.3_Missense_Mutation_p.S405L|KDM4C_ENST00000442236.2_Missense_Mutation_p.S224L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	405					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AACCCCGACTCAGTCACAGAT	0.502000													36	8					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28728463	28728463	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr18:28728463G>A	ENST00000257197.3	-	6	1031	c.770C>T	c.(769-771)tCc>tTc	p.S257F	DSC1_ENST00000257198.5_Missense_Mutation_p.S257F|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	257	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAACTTACCGGATCGGCAATT	0.328000													23	50					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150483596	150483596	+	Silent	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:150483596C>G	ENST00000369047.4	+	6	755	c.630C>G	c.(628-630)ctC>ctG	p.L210L	ECM1_ENST00000369049.4_Silent_p.L237L|ECM1_ENST00000346569.6_Silent_p.L210L|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	210	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGAGACCCTCAATTTCCTGG	0.542000													57	72					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57568728	57568728	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr20:57568728G>A	ENST00000602795.1	+	13	1592	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	NELFCD_ENST00000344018.3_Missense_Mutation_p.R506Q|NELFCD_ENST00000479207.1_3'UTR	NM_198976.2	NP_945327.2			negative elongation factor complex member C/D																		CTGCTGAGTCGAGGTTATGTA	0.498000													65	116					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3685343	3685343	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:3685343C>T	ENST00000250693.1	+	5	1009	c.908C>T	c.(907-909)tCt>tTt	p.S303F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	303					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCCCCCTCTCTGCAGTCTGG	0.562000													65	21					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165124	60165124	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:60165124C>T	ENST00000261187.4	+	3	506	c.342C>T	c.(340-342)ctC>ctT	p.L114L	SLC16A7_ENST00000547379.1_Silent_p.L114L|SLC16A7_ENST00000552432.1_Silent_p.L114L|SLC16A7_ENST00000543448.1_Silent_p.L15L|SLC16A7_ENST00000552024.1_Silent_p.L114L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	114						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AGCTGTACCTCACTATGGGAT	0.423000													68	110					0	0	1	0	0
CCL11	6356	broad.mit.edu	37	17	32612839	32612839	+	Silent	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:32612839C>A	ENST00000305869.3	+	1	153	c.12C>A	c.(10-12)tcC>tcA	p.S4S		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	4					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAAGGTCTCCGCAGCACTTC	0.597000													71	112					4.81439e-37	5.36249e-37	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178951979	178951979	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:178951979G>C	ENST00000263967.3	+	21	3191	c.3034G>C	c.(3034-3036)Gaa>Caa	p.E1012Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1012	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E1012K(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGGAATGCCAGAACTACAATC	0.383000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			31	50					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49062234	49062234	+	Splice_Site	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:49062234C>T	ENST00000326739.4	-	12	1336	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	433					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TTGTCAGCTTCACTGCAGGGA	0.532000													51	64					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54584978	54584978	+	Missense_Mutation	SNP	C	C	T	rs138960217		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:54584978C>T	ENST00000336470.4	+	15	1695	c.1556C>T	c.(1555-1557)tCa>tTa	p.S519L	GNL3L_ENST00000360845.2_Missense_Mutation_p.S519L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	519					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GATGTCTGCTCAGTGGACCGC	0.562000													47	62					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586436	237586436	+	Missense_Mutation	SNP	G	G	A	rs35041432		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:237586436G>A	ENST00000366574.2	+	12	1210	c.893G>A	c.(892-894)cGc>cAc	p.R298H	RYR2_ENST00000542537.1_Missense_Mutation_p.R282H|RYR2_ENST00000360064.6_Missense_Mutation_p.R296H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	298	MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCGACTACGCCATGTCACA	0.428000													42	46					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66213872	66213872	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:66213872C>T	ENST00000273854.3	-	15	3158	c.2558G>A	c.(2557-2559)cGa>cAa	p.R853Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.R831Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.R690Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.R854Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	853	Protein kinase.				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						AGTAAACTTTCGGAAAGCTAT	0.393000										TSP Lung(17;0.13)			12	97					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	930416	930416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr10:930416G>A	ENST00000316157.3	-	2	152	c.112C>T	c.(112-114)Cag>Tag	p.Q38*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	38							nucleotide binding|RNA binding	p.Q38*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAACTTGTCTGAGAAGTGGTT	0.328000													28	11					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122722	18122722	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:18122722C>T	ENST00000340650.3	-	1	129	c.116G>A	c.(115-117)cGg>cAg	p.R39Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	39					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GCGCGGGCGCCGCTGCTGCCG	0.697000													7	43					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187611849	187611849	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:187611849C>T	ENST00000304698.5	+	4	799	c.596C>T	c.(595-597)tCa>tTa	p.S199L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	199						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTTCAGTTTTCAAAAGCCTTA	0.368000													6	91					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128629634	128629634	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:128629634C>T	ENST00000308982.7	+	17	1824	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	ACAD9_ENST00000511526.1_3'UTR|KIAA1257_ENST00000511438.1_Intron|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	581						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAATCTCTTCAGCCTCTCTC	0.527000													39	62					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23861792	23861792	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr14:23861792C>G	ENST00000405093.3	-	25	3391	c.3321G>C	c.(3319-3321)caG>caC	p.Q1107H	MYH6_ENST00000356287.3_Missense_Mutation_p.Q1107H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1107					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAGTTTCTTCTGTAGTTGAA	0.502000													13	224					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61236015	61236015	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:61236015C>G	ENST00000316752.6	-	3	523	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	PUS10_ENST00000407787.1_Missense_Mutation_p.E88Q	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	88					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATCCTTCCCTCTCCATTTTGA	0.353000													7	45					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173772172	173772172	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:173772172G>A	ENST00000356198.2	-	6	1315	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y	CENPL_ENST00000367710.3_Missense_Mutation_p.H298Y|CENPL_ENST00000345664.6_Missense_Mutation_p.H298Y	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	298					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GCTGATAAATGAATTTTGAAA	0.368000													4	85					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784068	82784068	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:82784068G>A	ENST00000333891.9	-	2	2226	c.1889C>T	c.(1888-1890)aCg>aTg	p.T630M	PCLO_ENST00000423517.2_Missense_Mutation_p.T630M	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACCTCCGTTAAATGAGG	0.383000													3	59					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186506969	186506969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:186506969G>T	ENST00000323963.5	+	11	1199	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	EIF4A2_ENST00000440191.2_Nonsense_Mutation_p.E380*|EIF4A2_ENST00000356531.5_Nonsense_Mutation_p.E284*			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	379	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CTTTGTTACTGAAGAAGACAA	0.408000			T	BCL6	NHL								24	160					3.6726e-16	3.95679e-16	1	1	0
ARCN1	372	broad.mit.edu	37	11	118454044	118454044	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:118454044G>A	ENST00000359415.4	+	4	706	c.541G>A	c.(541-543)Gag>Aag	p.E181K	ARCN1_ENST00000264028.4_Missense_Mutation_p.E140K|ARCN1_ENST00000392859.3_Missense_Mutation_p.E52K|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	140					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGATTCTCATGAGGAGAAGGT	0.408000													6	24					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68846154	68846154	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:68846154C>T	ENST00000261769.5	+	8	1316	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	CDH1_ENST00000422392.2_Silent_p.F375F|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	375	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTCCGATCTTCAATCCCACCA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				36	58					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530228	140530228	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:140530228G>A	ENST00000231136.1	+	1	390	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		130	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCACGCCCCGGAATTCCCTG	0.458000													55	86					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10104363	10104363	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:10104363G>A	ENST00000324907.9	+	7	1039		c.e7-1		GRHL1_ENST00000405379.2_Splice_Site|GRHL1_ENST00000324883.5_Splice_Site	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)						cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTCTTTCACAGAGTGTGATCA	0.398000													8	23					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20371498	20371498	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:20371498C>T	ENST00000222573.4	+	1	753	c.69C>T	c.(67-69)ccC>ccT	p.P23P	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GGCGAGGTCCCGCCTCGTTCC	0.557000													6	39					0	0	1	0	0
POLR1D	51082	broad.mit.edu	37	13	28222568	28222568	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:28222568G>A	ENST00000399697.3	+	2	197	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	28					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		AACTAGAGCTGAAACAATGGG	0.358000													4	31					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243327732	243327732	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:243327732G>C	ENST00000366542.1	-	13	3581	c.3530C>G	c.(3529-3531)tCt>tGt	p.S1177C	CEP170_ENST00000366543.1_Missense_Mutation_p.S1079C|CEP170_ENST00000366544.1_Missense_Mutation_p.S1079C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1177	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGTCCTCGAAGAGGCACTACT	0.448000													3	34					0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66584026	66584026	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:66584026G>A	ENST00000299697.7	-	1	289	c.65C>T	c.(64-66)gCa>gTa	p.A22V	TK2_ENST00000544898.1_5'UTR|TK2_ENST00000417693.3_5'UTR|TK2_ENST00000451102.2_5'UTR|TK2_ENST00000527284.1_Intron|Y_RNA_ENST00000563151.1_lincRNA	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	0					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GCGGACGACTGCTAGTCCAGC	0.677000													7	8					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94194116	94194116	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:94194116G>C	ENST00000323929.3	-	12	1534	c.1312C>G	c.(1312-1314)Caa>Gaa	p.Q438E	MRE11A_ENST00000407439.3_Missense_Mutation_p.Q441E|MRE11A_ENST00000323977.3_Missense_Mutation_p.Q438E|MRE11A_ENST00000393241.4_Missense_Mutation_p.Q438E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	438					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCTGCGGTTTGAAAGTACTGT	0.313000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				18	6					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				14	11					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51754578	51754578	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:51754578C>T	ENST00000447632.2	-	17	1699	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	TTC39A_ENST00000451380.1_Missense_Mutation_p.E515K|TTC39A_ENST00000262675.7_Missense_Mutation_p.E488K|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000530004.1_Missense_Mutation_p.E159K|TTC39A_ENST00000413473.2_Missense_Mutation_p.E519K|TTC39A_ENST00000371750.5_Missense_Mutation_p.E516K			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	551							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGGGCCAGCTCCAGCAGGGCG	0.498000													5	9					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150925747	150925747	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:150925747G>A	ENST00000261800.5	-	9	4953	c.4941C>T	c.(4939-4941)atC>atT	p.I1647I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1647	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGACATGAATGATCACTGTAG	0.473000													28	41					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89341244	89341244	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:89341244T>C	ENST00000301030.4	-	11	8151	c.7691A>G	c.(7690-7692)tAc>tGc	p.Y2564C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y2564C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2564						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGCATGTTGTAGACCTCGGA	0.642000													34	48					0	0	1	0	0
TATDN1	83940	broad.mit.edu	37	8	125528235	125528235	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:125528235C>G	ENST00000276692.6	-	5	276	c.239G>C	c.(238-240)aGa>aCa	p.R80T	TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Missense_Mutation_p.R33T|TATDN1_ENST00000605953.1_Missense_Mutation_p.R80T|TATDN1_ENST00000517678.1_Missense_Mutation_p.R26T	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	80						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCACCACATCTTGTAGGATG	0.303000													35	22					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861965	26861965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:26861965C>A	ENST00000226247.2	+	7	1405	c.1376C>A	c.(1375-1377)tCa>tAa	p.S459*	FOXN1_ENST00000579795.1_Nonsense_Mutation_p.S459*	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	459					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TTGCACCTCTCACCAGGCCTG	0.667000													6	36					0.000274275	0.000281268	1	1	0
KLHL6	89857	broad.mit.edu	37	3	183211916	183211916	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:183211916C>T	ENST00000341319.3	-	5	1336	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	434										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATTGTTGATTCTCTGTAAGCC	0.463000													64	100					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30787031	30787031	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:30787031G>A	ENST00000256079.4	-	23	3223	c.2885C>T	c.(2884-2886)aCa>aTa	p.T962I	IPO8_ENST00000544829.1_Missense_Mutation_p.T757I	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	962					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGAGCTTGTGTAAAAAACTG	0.373000													16	40					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16623927	16623927	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:16623927G>C	ENST00000443444.2	+	8	1986	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	CCDC144A_ENST00000360524.8_Missense_Mutation_p.E616Q|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E616Q|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E336Q|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E616Q			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	616																	CTCTGTTTATGAGAATTTTAT	0.388000													20	13					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096055	39096055	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:39096055C>G	ENST00000591517.1	-	19	1468	c.1440G>C	c.(1438-1440)aaG>aaC	p.K480N	MAP4K1_ENST00000423454.2_Missense_Mutation_p.K142N|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.K476N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.K480N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	480					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACCTTTCTCTTCATCTTTT	0.582000													5	6					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150644593	150644593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:150644593G>C	ENST00000392968.2	-	11	3807	c.2687C>G	c.(2686-2688)tCa>tGa	p.S896*	KCNH2_ENST00000262186.5_Nonsense_Mutation_p.S992*|KCNH2_ENST00000330883.4_Nonsense_Mutation_p.S652*			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	992					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGACACTCCTGAGAAGGCGCC	0.692000													3	0					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732041	92732041	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:92732041C>T	ENST00000379958.2	-	3	3639	c.3370G>A	c.(3370-3372)Ggt>Agt	p.G1124S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1124						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGACTTGACCCAGTGTATCT	0.358000													63	86					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5784284	5784284	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr10:5784284C>G	ENST00000328090.5	+	14	3177	c.2552C>G	c.(2551-2553)tCt>tGt	p.S851C	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	851																	TCTGCAGACTCTCTGTTGGAG	0.428000													60	26					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109191264	109191264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:109191264G>C	ENST00000370032.5	-	8	1526	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S369*|HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S400*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	369					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CAGAGGAATTGAGTCAGCAAT	0.413000													9	65					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36220927	36220927	+	Silent	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:36220927C>G	ENST00000222270.7	+	23	4977	c.4977C>G	c.(4975-4977)ctC>ctG	p.L1659L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.L1659L	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CCTCCTGCCTCAGCAACTTCC	0.617000													4	28					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36995749	36995749	+	Silent	SNP	A	A	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:36995749A>G	ENST00000282516.8	+	11	3646	c.3147A>G	c.(3145-3147)aaA>aaG	p.K1049K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.K1049K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1049					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGTGTTAAAAGAATTACCCC	0.328000													40	64					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646911	57646911	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:57646911G>A	ENST00000269834.1	-	5	1179	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTAATGCAGGATGATTTCCA	0.358000													54	101					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175912	57175912	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:57175912C>T	ENST00000537055.2	-	2	886	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TAGGGCCGCTCGCCCGTGTGC	0.711000													17	22					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43022926	43022926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:43022926G>A	ENST00000356231.3	-	14	2067	c.2044C>T	c.(2044-2046)Cga>Tga	p.R682*		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	682						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGCAGCCCTCGCTGCAGCAGA	0.637000													8	12					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54585050	54585050	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:54585050C>G	ENST00000336470.4	+	15	1767	c.1628C>G	c.(1627-1629)tCt>tGt	p.S543C	GNL3L_ENST00000360845.2_Missense_Mutation_p.S543C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	543					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCTCTGGCATCTGCCCTGAAA	0.547000													20	21					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255462	70255462	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:70255462G>A	ENST00000342771.4	+	19	3581	c.3260G>A	c.(3259-3261)aGa>aAa	p.R1087K	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1063K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1087										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATTCACCGGAGAGACCCGCTG	0.657000													6	28					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073708	134073708	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:134073708G>C	ENST00000264360.5	+	1	3239	c.2413G>C	c.(2413-2415)Gag>Cag	p.E805Q		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGCCGATAGAGGAGTCCGG	0.577000													3	25					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40779876	40779876	+	Splice_Site	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:40779876C>T	ENST00000372748.3	-	4	346		c.e4+1			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-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;2.08e-17)			CAGCTACTCACATCAATCCCG	0.587000													48	89					0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167944941	167944941	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:167944941G>A	ENST00000231572.3	+	14	1801	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	RARS_ENST00000538719.1_Missense_Mutation_p.E377K	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	583					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACGGTTCCCTGAGATTCTGCA	0.393000													54	81					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209518	44209518	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:44209518G>C	ENST00000260665.7	-	2	262	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	LRPPRC_ENST00000409659.1_Missense_Mutation_p.Q69E|LRPPRC_ENST00000409946.1_Missense_Mutation_p.Q69E	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	69					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACTCCTCTTGAATATCTTTT	0.378000													16	65					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166626724	166626724	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:166626724C>G	ENST00000392701.3	-	2	1262	c.487G>C	c.(487-489)Gat>Cat	p.D163H		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	163					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GGTCCAAGATCTCGGTGCAAA	0.433000													11	60					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807646	20807646	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:20807646C>G	ENST00000601440.1	-	4	1183	c.1037G>C	c.(1036-1038)tGt>tCt	p.C346S	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GGCTTTGCCACATTCTTCACA	0.373000													6	153					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51201076	51201076	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:51201076C>T	ENST00000261842.5	+	1	207	c.101C>T	c.(100-102)tCg>tTg	p.S34L	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	34					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCCTTCTCCTCGAGGCTGGGC	0.692000													8	7					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46319240	46319240	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:46319240C>G	ENST00000245934.7	-	26	3800	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1186					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGGCTTCCTCAGACGGGGGC	0.682000													7	12					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080415	126080415	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:126080415G>A	ENST00000368364.3	+	5	678	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	HEY2_ENST00000368365.1_Missense_Mutation_p.A115T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	161					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCACTTGCGCCACCCAGCG	0.667000													19	48					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475692	66475692	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:66475692C>G	ENST00000533211.1	-	12	1601	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E424Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E424Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	424					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCAGCTGCTCCAGCTTCTCC	0.672000													28	8					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65444460	65444460	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:65444460G>A	ENST00000304895.4	-	4	780	c.650C>T	c.(649-651)tCt>tTt	p.S217F	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.S217F|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	217					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGAAGTACAGACCGCTGCAG	0.527000													15	59					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67845767	67845767	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:67845767G>A	ENST00000262345.1	+	13	2456	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	IL12RB2_ENST00000544434.1_Missense_Mutation_p.E520K|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000541374.1_Missense_Mutation_p.E606K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.E606K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	606	Fibronectin type-III 5.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGCTGCTGGTGAAAGTTCCCA	0.493000													10	50					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475706	133475706	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:133475706G>A	ENST00000402696.3	+	7	1208	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TF_ENST00000264998.3_Silent_p.Q114Q	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	241	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ACAGGGACCAGTATGAGCTGC	0.557000													58	73					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5827318	5827318	+	Silent	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:5827318G>C	ENST00000324989.7	-	13	1960	c.1872C>G	c.(1870-1872)ccC>ccG	p.P624P	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.P508P|CRMP1_ENST00000397890.2_Silent_p.P510P|EVC_ENST00000382674.2_Intron	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	510					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTGCATATTTGGGTGTAGCTG	0.507000													12	69					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39541063	39541063	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:39541063C>T	ENST00000379631.4	-	7	1119	c.775G>A	c.(775-777)Gag>Aag	p.E259K	STOML3_ENST00000423210.1_Missense_Mutation_p.E250K	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	259						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GAATTCTTCTCGGTGGCTACC	0.507000													10	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456848	179456848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:179456848G>C	ENST00000589042.1	-	302	60007	c.59783C>G	c.(59782-59784)tCa>tGa	p.S19928*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S17360*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S11055*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S18287*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S10988*|TTN_ENST00000460472.2_Nonsense_Mutation_p.S10863*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18287	Fibronectin type-III 44.						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)			TGATGTAGCTGAGAGAGGTGA	0.478000													3	42					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140069483	140069483	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr9:140069483C>T	ENST00000323927.2	-	13	2384	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	794					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)		CCCTGCAGCTCCTGCAGGTCA	0.607000													8	1					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43541202	43541202	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr21:43541202G>A	ENST00000400424.2	+	16	2875	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	UMODL1_ENST00000400427.1_Missense_Mutation_p.D955N|UMODL1_ENST00000408910.2_Missense_Mutation_p.D899N|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1027N|UMODL1_ENST00000400423.2_3'UTR	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCAGATTACGATGAGTGTGA	0.537000													26	122					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46448263	46448263	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr18:46448263C>G	ENST00000262158.2	-	4	1046	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	SMAD7_ENST00000591805.1_Missense_Mutation_p.E39Q|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.E253Q	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	254					adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCCCCAGGCTCCAGAAGAAGT	0.562000													21	3					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116280869	116280869	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:116280869A>C	ENST00000261448.5	-	4	747	c.508T>G	c.(508-510)Ttt>Gtt	p.F170V	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	170					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCTTGAAAAAGCCAATGAGT	0.448000													6	155					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498138	106498138	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:106498138C>T	ENST00000233154.4	+	4	1023	c.581C>T	c.(580-582)tCc>tTc	p.S194F	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S194F|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	194					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						GGCCAGGGCTCCCGCGTGCTG	0.632000													48	49					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	30					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274920	65274920	+	Silent	SNP	T	T	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:65274920T>C	ENST00000381210.3	-	1	260	c.150A>G	c.(148-150)ccA>ccG	p.P50P	TECRL_ENST00000507440.1_Silent_p.P50P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	50					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTTTGACTGCTGGAGTTGGTC	0.363000													25	54					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50451698	50451698	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr18:50451698A>G	ENST00000442544.2	+	5	1559	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	DCC_ENST00000412726.1_Missense_Mutation_p.K163E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	315	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTCACATATAAAAATGAGAA	0.393000													18	55					0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95088371	95088371	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr9:95088371G>A	ENST00000375587.3	+	1	606	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	31					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GCCCTGGGAAGAGAAGTCCCG	0.692000													3	2					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49427647	49427647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:49427647G>T	ENST00000301067.7	-	39	10840	c.10841C>A	c.(10840-10842)tCa>tAa	p.S3614*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGCACAGCTGAGtgctgttg	0.597000													4	5					0.150653	0.151071	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120575778	120575778	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:120575778C>G	ENST00000300648.6	-	48	6332	c.6320G>C	c.(6319-6321)cGt>cCt	p.R2107P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2107					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAAGATGACGGGTGAGGGC	0.577000													4	28					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155734860	155734860	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:155734860G>A	ENST00000437809.1	-	21	4526	c.4404C>T	c.(4402-4404)ctC>ctT	p.L1468L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L1468L|GON4L_ENST00000271883.5_Silent_p.L1468L|GON4L_ENST00000368331.1_Silent_p.L1468L	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1468	Glu-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCTTGGGTGAGGTCATCAA	0.483000													13	96					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18438680	18438680	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:18438680C>G	ENST00000338745.6	-	6	2476	c.742G>C	c.(742-744)Gat>Cat	p.D248H	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.D248H|SATB1_ENST00000454909.2_Missense_Mutation_p.D248H	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	248	Nuclear matrix targeting sequence (NMTS).				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	p.D248Y(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCATCATATCTTTTGTCTTC	0.368000													26	46					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102564716	102564716	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:102564716G>A	ENST00000260229.4	-	8	1205	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	372					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TTCTTCACACGTCCTGGAAAA	0.418000													47	20					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22326320	22326320	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr22:22326320C>T	ENST00000398793.2	-	5	747	c.313G>A	c.(313-315)Gag>Aag	p.E105K	TOP3B_ENST00000357179.5_Missense_Mutation_p.E105K|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	105	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCTCTGCCCTCCACCTGCCAC	0.622000													16	14					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475186	17475186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr20:17475186C>A	ENST00000377873.3	-	8	1570	c.1531G>T	c.(1531-1533)Gag>Tag	p.E511*	BFSP1_ENST00000544874.1_Nonsense_Mutation_p.E372*|BFSP1_ENST00000536626.1_Nonsense_Mutation_p.E372*|BFSP1_ENST00000377868.2_Nonsense_Mutation_p.E386*	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	511	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GGAGAGGGCTCCACCTGGCCG	0.522000													32	40					8.88839e-20	9.63353e-20	1	1	0
MAP10	54627	broad.mit.edu	37	1	232941107	232941107	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:232941107G>A	ENST00000418460.1	+	1	465	c.338G>A	c.(337-339)cGa>cAa	p.R113Q		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AGCAGGCAGCGATGCCTTTTG	0.622000													29	38					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823047	40823047	+	Silent	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:40823047C>G	ENST00000293349.6	-	9	1816	c.1386G>C	c.(1384-1386)ggG>ggC	p.G462G	PLEKHH3_ENST00000591022.1_Silent_p.G462G|PLEKHH3_ENST00000412503.1_Silent_p.G462G|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	462	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCACGAGGGTCCCCCCAGCCA	0.652000													3	90					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44115956	44115956	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:44115956G>C	ENST00000262419.6	-	10	2959	c.2489C>G	c.(2488-2490)tCa>tGa	p.S830*	KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S767*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S830*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.S124*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S830*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S830*	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	830						MLL1 complex	protein binding										AGGGGAATCTGAGGAGGTGGA	0.592000													20	25					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763773	77763773	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:77763773G>A	ENST00000521891.2	+	10	5064	c.4616G>A	c.(4615-4617)cGt>cAt	p.R1539H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1494H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1513H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1494H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1494						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)			GATCCATCTCGTCCATATAAA	0.388000										HNSCC(33;0.089)			24	24					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193048927	193048927	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:193048927G>A	ENST00000342358.4	-	12	1563	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	482					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAAAGCACACGAGGTTTATTT	0.428000													21	120					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173806135	173806135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:173806135C>T	ENST00000361951.4	+	8	1448	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	241					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTCTCTCCCTCAGAGTCCTCA	0.388000													74	104					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761367	55761367	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:55761367C>T	ENST00000278409.1	-	1	734	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTATGGCTGTCAGGTGAGAGG	0.488000													9	32					0	0	1	0	0
RFXAP	5994	broad.mit.edu	37	13	37394063	37394063	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:37394063C>T	ENST00000255476.2	+	1	703	c.569C>T	c.(568-570)tCg>tTg	p.S190L		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	190						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GGGACTGCCTCGACTGGCAGC	0.532000													4	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432147	179432147	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:179432147C>G	ENST00000589042.1	-	326	78936	c.78712G>C	c.(78712-78714)Gct>Cct	p.A26238P	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23670P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A17365P|TTN_ENST00000591111.1_Missense_Mutation_p.A24597P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17298P|TTN_ENST00000460472.2_Missense_Mutation_p.A17173P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24597	Fibronectin type-III 91.						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)			TCACATCTAGCAGATTCTTCA	0.378000													9	160					0	0	1	0	0
TIGD7	91151	broad.mit.edu	37	16	3350414	3350414	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:3350414C>T	ENST00000396862.1	-	2	2029	c.201G>A	c.(199-201)gaG>gaA	p.E67E	TIGD7_ENST00000268674.2_Silent_p.E67E	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	67					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCTTTCTCTTCTCAGCCCCTA	0.423000													62	88					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577613	67577613	+	Silent	SNP	T	T	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:67577613T>C	ENST00000310421.4	-	1	1839	c.1581A>G	c.(1579-1581)gtA>gtG	p.V527V		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	527					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CATAGTCTGGTACCAGAACAT	0.423000													7	277					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45389873	45389873	+	Missense_Mutation	SNP	C	C	A	rs141763307		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:45389873C>A	ENST00000389039.6	-	28	4017	c.3632G>T	c.(3631-3633)cGc>cTc	p.R1211L	DUOX2_ENST00000603300.1_Missense_Mutation_p.R1211L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1211	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGCGGCGGCGGAAGTGGTG	0.627000													8	70					0.000157383	0.000162316	1	1	0
RSRC2	65117	broad.mit.edu	37	12	122991457	122991457	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:122991457G>C	ENST00000331738.7	-	9	1194	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C	RSRC2_ENST00000354654.2_Missense_Mutation_p.S302C|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	350										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TATTTCAGCAGATTGGGATTT	0.299000													4	64					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70516175	70516175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr10:70516175C>T	ENST00000265872.6	+	14	1890	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R576*|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R576*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	591					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AACCCTCTCCCGAGGATACAA	0.527000													14	7					0	0	1	0	0
MBLAC1	255374	broad.mit.edu	37	7	99725743	99725743	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:99725743C>T	ENST00000398075.2	+	2	1124	c.725C>T	c.(724-726)tCg>tTg	p.S242L		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	242							hydrolase activity|metal ion binding	p.S242L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						AGGGAAGCCTCGCAGCCCGAG	0.677000													6	6					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61833909	61833909	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:61833909C>A	ENST00000225726.5	-	7	1139	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	CCDC47_ENST00000403162.3_Missense_Mutation_p.D253Y|CCDC47_ENST00000582252.1_Missense_Mutation_p.D253Y	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	253						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ATGTCTTCATCATTCATGGTT	0.378000													76	45					9.16385e-24	1.0083e-23	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72821609	72821609	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:72821609G>A	ENST00000268489.5	-	10	11238	c.10566C>T	c.(10564-10566)ggC>ggT	p.G3522G	ZFHX3_ENST00000397992.5_Silent_p.G2608G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3522	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccgccgccac	0.701000													29	44					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	407524	407524	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:407524C>T	ENST00000431843.2	-	6	832	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SIGIRR_ENST00000531205.1_Missense_Mutation_p.E176K|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Missense_Mutation_p.E176K|SIGIRR_ENST00000397632.3_Missense_Mutation_p.E176K|SIGIRR_ENST00000332725.3_Missense_Mutation_p.E176K	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	176	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCGGTCCTCGGGGCAGTCG	0.677000													11	3					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374465	1374465	+	Translation_Start_Site	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:1374465G>A	ENST00000404702.3	+	0	467				VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000476993.1_Silent_p.A212A	NM_199121.2	NP_954572.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1							basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCACAGACGCGATGCGGCCGC	0.672000													7	14					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145737809	145737809	+	Silent	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:145737809G>C	ENST00000428558.2	-	18	3062	c.3021C>G	c.(3019-3021)ctC>ctG	p.L1007L	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1007					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)			GCAGCTGGCAGAGAGCCCGCC	0.667000			"""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				10	37					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45811689	45811689	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:45811689C>T	ENST00000221476.3	-	6	929	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	252	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TACGCAGAAGCGGCGGAAAAC	0.597000													16	30					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:18122786C>G	ENST00000340650.3	-	1	65	c.52G>C	c.(52-54)Gag>Cag	p.E18Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	18					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E18*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711000													9	66					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338910	13338910	+	RNA	SNP	A	A	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:13338910A>C	ENST00000602906.1	+	0	698																				kidney(3)|lung(1)	4						aagaaaactaagaagatcaaa	0.393000													21	12					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467816	164467816	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:164467816G>A	ENST00000333129.3	-	3	840	c.526C>T	c.(526-528)Ctt>Ttt	p.L176F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	176						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTGCATGAAGACTGGGTACA	0.498000													21	48					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41547874	41547874	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr22:41547874C>G	ENST00000263253.7	+	15	4074	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	952					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						GGACAGGTATCAAATCCTCCA	0.478000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				73	49					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71960475	71960475	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:71960475G>C	ENST00000266674.5	+	10	1304	c.993G>C	c.(991-993)gaG>gaC	p.E331D	LGR5_ENST00000536515.1_Missense_Mutation_p.E259D|LGR5_ENST00000540815.2_Missense_Mutation_p.E307D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	331						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAAACCTGGAGAGTCTGTAAG	0.393000													41	66					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88900808	88900808	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:88900808C>G	ENST00000347404.5	-	6	1199	c.627G>C	c.(625-627)tgG>tgC	p.W209C	KITLG_ENST00000357116.4_Missense_Mutation_p.W20C|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000228280.5_Missense_Mutation_p.W237C	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	237					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CACTTACCTTCCAGTATAAGG	0.373000									Testicular Cancer, Familial Clustering of				4	78					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152471030	152471030	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:152471030C>T	ENST00000397345.3	-	77	11563	c.11361G>A	c.(11359-11361)ccG>ccA	p.P3787P	NEB_ENST00000603639.1_Silent_p.P3787P|NEB_ENST00000604864.1_Silent_p.P3787P|NEB_ENST00000409198.1_Silent_p.P3544P|NEB_ENST00000172853.10_Silent_p.P3544P|NEB_ENST00000427231.2_Silent_p.P3787P	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3787					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.P3544P(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCTTCGGGTCATCCT	0.468000													47	227					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698852	111698852	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:111698852G>C	ENST00000340433.2	+	1	1126	c.896G>C	c.(895-897)cGa>cCa	p.R299P		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	299							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAACGTTCTCGAGCTCCGGCA	0.488000													31	22					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284545	130284545	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:130284545C>T	ENST00000257359.6	-	5	2153	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	483	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CACAGGGGCTCAGCCCCATCA	0.652000													47	18					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750310	167750310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:167750310C>A	ENST00000470487.1	-	9	1863	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E364*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	392	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTCATACCTCAGCACGCGCG	0.478000													63	79					5.80444e-35	6.44542e-35	1	1	0
OR5R1	219479	broad.mit.edu	37	11	56185293	56185293	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:56185293C>G	ENST00000312253.1	-	1	415	c.416G>C	c.(415-417)aGa>aCa	p.R139T		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139K(1)		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)					AATGCAGACTCTTCTTGACAT	0.473000													6	39					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393020	50393020	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:50393020G>A	ENST00000595948.1	-	10	2297	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	IL4I1_ENST00000341114.3_Silent_p.P559P|IL4I1_ENST00000391826.2_Silent_p.P537P	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	537						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GGTCATGCGAGGGGCTGCTGG	0.612000													9	70					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952934	56952934	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:56952934C>T	ENST00000504904.3	-	7	2149	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	ZNF667_ENST00000342634.3_Missense_Mutation_p.G605E|ZNF667_ENST00000292069.6_Missense_Mutation_p.G477E|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	477					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)		GAAGGCTTTTCCACATTCCTC	0.408000													63	79					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48629534	48629534	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:48629534G>A	ENST00000006658.6	+	14	2070	c.1950G>A	c.(1948-1950)ctG>ctA	p.L650L	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.L590L|SPATA20_ENST00000356488.4_Silent_p.L634L	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	634					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCCTGCGTCTGAAGGACGGTC	0.647000													35	14					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561343	55561343	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:55561343C>G	ENST00000436346.1	-	15	3455	c.2614G>C	c.(2614-2616)Gaa>Caa	p.E872Q	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E872Q|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E872Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E872Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	872					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATACCAATTTCTTTGGATAGG	0.308000													19	80					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73043047	73043047	+	RNA	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:73043047C>A	ENST00000604411.1	+	0	31008				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTATCAGTCTCCTGGCTTTAA	0.318000													3	14					0.004672	0.00473743	1	1	0
RFTN2	130132	broad.mit.edu	37	2	198482526	198482526	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:198482526C>G	ENST00000295049.4	-	6	1584	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CAGCTCACCTCAATAACAGTC	0.308000													28	35					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33878261	33878261	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:33878261G>A	ENST00000389232.4	+	16	1802	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	RYR3_ENST00000415757.3_Missense_Mutation_p.E578K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	578					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)		TCTGATAGCGGAGGGCCACAT	0.453000													8	61					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33065682	33065682	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr21:33065682C>G	ENST00000286835.7	-	12	1820	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	SCAF4_ENST00000399804.1_Missense_Mutation_p.E480Q|SCAF4_ENST00000434667.3_Missense_Mutation_p.E465Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	480						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCCGTCTTTCTTGAGATCGA	0.493000													62	59					0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111800958	111800958	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:111800958C>T	ENST00000361483.3	-	4	752	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	FAM109A_ENST00000450786.2_Silent_p.T72T|FAM109A_ENST00000392658.5_Missense_Mutation_p.V92M|FAM109A_ENST00000548163.1_Missense_Mutation_p.V92M|FAM109A_ENST00000547838.2_Missense_Mutation_p.V92M	NM_001177996.1	NP_001171467.1	Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	92	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						GCGGCCAGCACGTAGGTGCGC	0.687000													9	11					0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429905	80429905	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:80429905G>A	ENST00000261749.6	+	7	984	c.562G>A	c.(562-564)Gat>Aat	p.D188N	ZFAND6_ENST00000558087.1_Missense_Mutation_p.D188N|ZFAND6_ENST00000559157.1_Missense_Mutation_p.D176N|ZFAND6_ENST00000558494.1_Missense_Mutation_p.D188N|ZFAND6_ENST00000559775.1_Missense_Mutation_p.D188N|ZFAND6_ENST00000559835.1_Missense_Mutation_p.D188N|ZFAND6_ENST00000561060.1_Missense_Mutation_p.D188N	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	188							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTACAAAGCCGATGCTGCTGA	0.393000													47	53					0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417723	174417723	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:174417723G>A	ENST00000367685.2	+	1	512	c.474G>A	c.(472-474)ttG>ttA	p.L158L	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	158						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CTTGTCGCTTGAGAATTTGCA	0.418000													44	250					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60217634	60217634	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr18:60217634G>A	ENST00000269499.5	+	5	1672	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	ZCCHC2_ENST00000586834.1_Silent_p.L97L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	418					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TAAGAGCCCTGAATCAGGGTT	0.428000													12	3					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42229618	42229618	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:42229618G>A	ENST00000327628.5	+	5	962	c.562G>A	c.(562-564)Gag>Aag	p.E188K	TRAK1_ENST00000396175.1_Missense_Mutation_p.E130K|TRAK1_ENST00000341421.3_Missense_Mutation_p.E130K|TRAK1_ENST00000449246.1_Missense_Mutation_p.E114K|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	188	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGTGAGCCCGAGTCCGTTTG	0.587000													22	108					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664857	19664857	+	Silent	SNP	C	C	T	rs149435919	byFrequency	TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr20:19664857C>T	ENST00000328041.6	+	11	1136	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	313						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D313D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCATGGTAGACGAGCTGCTGT	0.507000													6	99					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022621	51022621	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:51022621G>T	ENST00000599957.1	-	3	546	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.L117M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	117						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TTCTTGCTCAGCTGCAGAATC	0.622000													4	50					0.00909568	0.00917169	1	1	0
TTLL7	79739	broad.mit.edu	37	1	84399301	84399301	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:84399301C>A	ENST00000260505.8	-	9	1414	c.1037G>T	c.(1036-1038)tGg>tTg	p.W346L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	346	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTCCAGAAGCCATGGCTTTAG	0.378000													49	78					2.74224e-37	3.06387e-37	1	1	0
RGS20	8601	broad.mit.edu	37	8	54852174	54852174	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:54852174G>C	ENST00000297313.3	+	3	641	c.549G>C	c.(547-549)caG>caC	p.Q183H	RGS20_ENST00000522225.1_Intron|RGS20_ENST00000276500.4_Missense_Mutation_p.Q36H|RGS20_ENST00000344277.6_Missense_Mutation_p.Q68H	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	183					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GGAAGCGGCAGATGCCCGCCG	0.662000													6	3					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37756733	37756733	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:37756733G>A	ENST00000330843.4	-	1	239	c.227C>T	c.(226-228)tCg>tTg	p.S76L	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S76L	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	76	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGACAGCAGCGATGGCAGCTC	0.731000													4	0					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120583068	120583068	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:120583068C>G	ENST00000300648.6	-	39	5026	c.5014G>C	c.(5014-5016)Gag>Cag	p.E1672Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1672					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACTCACCTCAGGCACAGGG	0.592000													7	19					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157455	146157455	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:146157455C>G	ENST00000276816.4	-	4	904	c.718G>C	c.(718-720)Gat>Cat	p.D240H	ZNF16_ENST00000394909.2_Missense_Mutation_p.D240H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CCACAATCATCACACATAAAG	0.443000													67	201					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38161016	38161016	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:38161016C>A	ENST00000358582.4	-	4	782	c.34G>T	c.(34-36)Gca>Tca	p.A12S	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.A12S	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A12S(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GCAGTCTCTGCCACATTCTTT	0.348000													14	128					9.31168e-06	9.68629e-06	1	1	0
ZNF263	10127	broad.mit.edu	37	16	3339990	3339990	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:3339990G>T	ENST00000219069.5	+	6	2360	c.1484G>T	c.(1483-1485)tGt>tTt	p.C495F	ZNF263_ENST00000538765.1_Missense_Mutation_p.C143F	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	495					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGCCCTGAGTGTGGGGAGATC	0.512000													31	34					5.60225e-13	5.94726e-13	1	1	0
IL27RA	9466	broad.mit.edu	37	19	14153553	14153553	+	Silent	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:14153553G>T	ENST00000263379.2	+	6	845	c.720G>T	c.(718-720)ggG>ggT	p.G240G		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	240					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGGTATCAGGGAACCTCTGTG	0.532000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	72					1.56452e-12	1.65602e-12	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590188	140590188	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:140590188C>T	ENST00000239450.2	+	1	1898	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A233V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		570	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A570V(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGGCTCCGCGCCCTGCACC	0.711000													61	66					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50782478	50782478	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:50782478G>A	ENST00000433963.1	+	15	2490	c.1990G>A	c.(1990-1992)Gga>Aga	p.G664R	USP8_ENST00000307179.4_Missense_Mutation_p.G664R|USP8_ENST00000396444.3_Missense_Mutation_p.G664R|USP8_ENST00000425032.3_Missense_Mutation_p.G558R			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	664					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCCAATCACTGGAACCTTTCG	0.373000													69	101					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42728562	42728562	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:42728562G>C	ENST00000301215.3	+	3	232	c.7G>C	c.(7-9)Gag>Cag	p.E3Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CACAATGGCAGAGGTGGTGGC	0.562000													15	69					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023453	167023453	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:167023453G>A	ENST00000392766.2	-	17	2043	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	ZBBX_ENST00000392764.1_Missense_Mutation_p.S539L|ZBBX_ENST00000392767.2_Missense_Mutation_p.S568L|ZBBX_ENST00000455345.2_Missense_Mutation_p.S568L|ZBBX_ENST00000307529.5_Missense_Mutation_p.S568L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	568						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTAGTTTTTGATTCTTCAAA	0.299000													39	47					0	0	1	0	0
APRT	353	broad.mit.edu	37	16	88876892	88876892	+	Missense_Mutation	SNP	C	C	T	rs117335001	by1000genomes	TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:88876892C>T	ENST00000378364.3	-	3	304	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Missense_Mutation_p.R87Q	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	87					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCCCCGCTTTCGGATGAGCAC	0.647000													12	26					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31117863	31117863	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:31117863C>G	ENST00000396268.3	-	8	1530	c.1342G>C	c.(1342-1344)Gtt>Ctt	p.V448L	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.V359L|CCHCR1_ENST00000376266.5_Missense_Mutation_p.V359L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.V412L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	359					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCTGCTTAACAGAGTCACTG	0.557000													24	52					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	96743170	96743170	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:96743170C>T	ENST00000376705.2	+	1	78	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	18						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CTCTCCTCTTCGTGGTCATCA	0.701000													19	15					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74354241	74354241	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:74354241C>T	ENST00000355773.5	-	2	448	c.180G>A	c.(178-180)ctG>ctA	p.L60L	SLC17A5_ENST00000393019.3_Silent_p.L60L	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	60					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGCAACACTCAGATTCACAC	0.393000													4	75					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40027304	40027304	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:40027304C>T	ENST00000181839.4	+	2	1923	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	CDK13_ENST00000340829.5_Missense_Mutation_p.P440S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	440					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAGTATTTCTCCTAGCACACT	0.473000													34	39					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806652	27806652	+	Silent	SNP	C	C	T	rs144837583		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:27806652C>T	ENST00000606613.1	+	1	274	c.213C>T	c.(211-213)ttC>ttT	p.F71F	HIST1H2BN_ENST00000396980.3_Silent_p.F71F			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ATGACATCTTCGAGCGCATCG	0.612000													113	140					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540726	40540726	+	Silent	SNP	A	A	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:40540726A>G	ENST00000434248.1	-	5	2105	c.2040T>C	c.(2038-2040)cgT>cgC	p.R680R	ZNF780B_ENST00000221355.6_Silent_p.R532R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTGAAACACGACTAAAGC	0.398000													71	110					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803616	20803616	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:20803616G>C	ENST00000289416.5	+	12	1988	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.E497Q|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	505					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TTCAGTTGCAGAGTCAGCTGT	0.423000													43	252					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20027262	20027262	+	Splice_Site	SNP	T	T	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:20027262T>A	ENST00000294543.6	-	14	1622	c.1381A>T	c.(1381-1383)Agg>Tgg	p.R461W	TMCO4_ENST00000375127.1_Splice_Site_p.R461W|TMCO4_ENST00000375122.2_Splice_Site_p.R421W|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	461						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGACAGACCTGCAGTAGCCG	0.572000													46	52					0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	248148	248148	+	RNA	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:248148G>T	ENST00000356347.3	+	0	972					NR_027481.1																						CAAATGTGAAGAATGCAGCAA	0.378000													20	54					6.33239e-15	6.80215e-15	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17427079	17427079	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:17427079G>A	ENST00000302539.4	-	27	3489	c.3364C>T	c.(3364-3366)Ctg>Ttg	p.L1122L	ABCC8_ENST00000389817.3_Silent_p.L1121L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1121	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AATCTGTTCAGGATGCTCCCA	0.502000													13	37					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189020319	189020319	+	Missense_Mutation	SNP	C	C	G	rs150263298	byFrequency	TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:189020319C>G	ENST00000512729.1	-	4	715	c.341G>C	c.(340-342)cGt>cCt	p.R114P	TRIML2_ENST00000326754.3_Missense_Mutation_p.R114P|TRIML2_ENST00000536972.1_Missense_Mutation_p.R164P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	114							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCTCCCCACACGGCCCAGTCT	0.468000													19	107					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919303	130919303	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:130919303C>T	ENST00000261655.4	-	11	2341	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	RIMBP2_ENST00000535703.1_Silent_p.L634L|RIMBP2_ENST00000536002.1_Silent_p.L634L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	726						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGAGCCTTTCAGGAAGTCGT	0.657000													64	43					0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34958346	34958346	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr21:34958346C>T	ENST00000453626.1	-	3	548	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	DONSON_ENST00000432378.1_Missense_Mutation_p.E182K|DONSON_ENST00000303071.5_Missense_Mutation_p.E182K|DONSON_ENST00000303113.6_Missense_Mutation_p.E182K|AP000304.12_ENST00000429238.1_Missense_Mutation_p.R143K			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	182					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CCTTGAGCTTCTTCCTGTGCT	0.393000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	113					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36592144	36592144	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:36592144G>A	ENST00000401500.2	+	24	2931	c.2896G>A	c.(2896-2898)Ggg>Agg	p.G966R	WDR62_ENST00000270301.7_Missense_Mutation_p.G966R	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	966					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGTGGAGGCCGGGCCTGGAGA	0.657000													7	5					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729156	42729156	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:42729156G>C	ENST00000301215.3	+	3	826	c.601G>C	c.(601-603)Gag>Cag	p.E201Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	201	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAGTGTCCTGAGTGCTCTAC	0.592000													32	160					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821668	72821668	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:72821668G>A	ENST00000268489.5	-	10	11179	c.10507C>T	c.(10507-10509)Cac>Tac	p.H3503Y	ZFHX3_ENST00000397992.5_Missense_Mutation_p.H2589Y|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3503					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGGGGACGTGAAGCACCATC	0.731000													19	30					0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25284237	25284237	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr20:25284237G>A	ENST00000339157.5	-	11	1250	c.978C>T	c.(976-978)ctC>ctT	p.L326L	ABHD12_ENST00000376542.3_Silent_p.L326L	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	326						integral to membrane	acylglycerol lipase activity	p.L326L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CGTGCAGGATGAGCAGGGGAC	0.612000													23	33					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760168	39760168	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:39760168G>A	ENST00000395670.3	-	6	1306	c.887C>T	c.(886-888)tCt>tTt	p.S296F	KIF21A_ENST00000361961.3_Missense_Mutation_p.S296F|KIF21A_ENST00000544797.2_Missense_Mutation_p.S296F|KIF21A_ENST00000361418.5_Missense_Mutation_p.S296F|KIF21A_ENST00000541463.2_Missense_Mutation_p.S296F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	296	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S296C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACAGTTGATAGAAATGCCTTC	0.388000													23	34					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59895050	59895050	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:59895050G>A	ENST00000265036.5	-	10	1347	c.1280C>T	c.(1279-1281)tCt>tTt	p.S427F	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	427					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGATGGAGCAGATAAAGTGAT	0.358000													5	77					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908141	53908141	+	Silent	SNP	A	A	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:53908141A>G	ENST00000396328.1	-	15	2501	c.2262T>C	c.(2260-2262)gaT>gaC	p.D754D	WDR72_ENST00000559418.1_Silent_p.D764D|WDR72_ENST00000557913.1_Silent_p.D751D|WDR72_ENST00000360509.5_Silent_p.D754D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	754										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGATGGTATTATCTCCTTGGG	0.408000													30	107					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155001749	155001749	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:155001749G>A	ENST00000368424.3	-	8	1360	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	DCST2_ENST00000295536.5_Silent_p.D434D	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	434						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCGGGCCAGGTCAAGCACCC	0.572000													7	84					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103228741	103228741	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:103228741G>A	ENST00000424970.2	-	4	719	c.404C>T	c.(403-405)tCa>tTa	p.S135L	SLC39A8_ENST00000356736.4_Missense_Mutation_p.S135L|SLC39A8_ENST00000394833.2_Missense_Mutation_p.S135L|SLC39A8_ENST00000510255.1_5'UTR	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	135						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AATCGTCACTGACAGGAATCC	0.388000													9	140					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132890954	132890954	+	Silent	SNP	T	T	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr9:132890954T>C	ENST00000372406.1	+	19	2127	c.1620T>C	c.(1618-1620)gtT>gtC	p.V540V	GPR107_ENST00000347136.6_Silent_p.V492V|GPR107_ENST00000372410.3_Silent_p.V511V	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	540						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TCTTCTTTGTTCTAACGGGGT	0.433000													16	158					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267169	123267169	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:123267169G>A	ENST00000451558.1	+	11	1224	c.703G>A	c.(703-705)Gat>Aat	p.D235N	ASB15_ENST00000434204.1_Missense_Mutation_p.D235N|ASB15_ENST00000275699.3_Missense_Mutation_p.D235N|ASB15_ENST00000451215.1_Missense_Mutation_p.D235N|ASB15_ENST00000540573.1_Missense_Mutation_p.D235N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	235					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCCAGGTGGTGATGTGCTTGC	0.517000													47	51					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111352062	111352062	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:111352062C>T	ENST00000228841.8	-	4	249	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	MYL2_ENST00000548438.1_Missense_Mutation_p.E54K	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	68					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TTGATCATTTCATCAATTTCT	0.463000													5	95					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18895433	18895433	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:18895433G>C	ENST00000446231.2	-	9	1490	c.1078C>G	c.(1078-1080)Ctt>Gtt	p.L360V	SMG1_ENST00000389467.3_Missense_Mutation_p.L360V|SMG1_ENST00000565224.1_Missense_Mutation_p.L334V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	360	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGACCAAGAAGAGTAGTAGAA	0.378000													7	45					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1817274	1817274	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:1817274C>T	ENST00000170168.4	-	12	3239	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1049						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCTTTCTCAAAGGTCTTC	0.632000													19	36					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000608	52000608	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:52000608G>A	ENST00000291707.3	-	6	1552	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SIGLEC12_ENST00000598614.1_Silent_p.F381F	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	499					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCACACAACGAAGATGATGC	0.572000													29	41					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131149105	131149105	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:131149105C>G	ENST00000352689.6	+	14	1766	c.1726C>G	c.(1726-1728)Ctt>Gtt	p.L576V	MKLN1_ENST00000421797.2_Missense_Mutation_p.L484V|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	576					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AACTAAAAGTCTTCAGGAAGA	0.403000													3	65					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54746164	54746164	+	Silent	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:54746164G>C	ENST00000440558.2	-	3	141	c.93C>G	c.(91-93)ctC>ctG	p.L31L	LILRA6_ENST00000396365.2_Silent_p.L31L|LILRA6_ENST00000270464.5_Silent_p.L31L|LILRB3_ENST00000407860.2_Silent_p.L31L|LILRA6_ENST00000245621.5_Silent_p.L31L|LILRA6_ENST00000419410.2_Silent_p.L31L|LILRA6_ENST00000391735.3_Silent_p.L31L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTCAGCCCAGAGGGTGGGTT	0.617000													12	57					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205566908	205566908	+	Splice_Site	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:205566908G>C	ENST00000367147.4	+	8	1391	c.1298G>C	c.(1297-1299)gGc>gCc	p.G433A	MFSD4_ENST00000536357.1_Splice_Site_p.G346A|MFSD4_ENST00000539267.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	433					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TTTTTGTTAGGCTGTGCAACC	0.522000													43	89					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108626980	108626980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:108626980G>A	ENST00000393963.3	-	4	558	c.559C>T	c.(559-561)Cga>Tga	p.R187*	GUCA1C_ENST00000261047.3_Silent_p.F173F			O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	0					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGGAGAAGTCGAAGCTCTTGT	0.423000													7	59					0	0	1	0	0
MSANTD3	91283	broad.mit.edu	37	9	103212938	103212938	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr9:103212938C>T	ENST00000395067.2	+	3	789	c.518C>T	c.(517-519)tCa>tTa	p.S173L	MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3_ENST00000489377.1_3'UTR	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						CCCTCGTGTTCAGCTGTCAGA	0.413000													4	58					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056707	120056707	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:120056707C>T	ENST00000235547.6	+	4	706	c.567C>T	c.(565-567)ccC>ccT	p.P189P	HSD3B1_ENST00000369413.3_Silent_p.P187P|HSD3B1_ENST00000528909.1_Silent_p.P187P	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	187					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CCTTACGACCCATGTATATCT	0.498000													7	145					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32716116	32716116	+	Splice_Site	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:32716116C>T	ENST00000357033.4	-	9	1038		c.e9-1		DMD_ENST00000288447.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGACCGTGATCTGCAGAGAAG	0.473000													8	9					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627336	158627336	+	Missense_Mutation	SNP	T	T	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:158627336T>G	ENST00000368147.4	-	19	2916	c.2736A>C	c.(2734-2736)gaA>gaC	p.E912D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATCCATGTTTCTGCTTCAT	0.468000													5	129					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224541	107224541	+	Silent	SNP	G	G	A	rs41300888		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:107224541G>A	ENST00000302917.1	-	3	800	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	236								p.C236C(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCTCTGCCCCGCAAAGGTGTA	0.592000													4	174					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122799555	122799555	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:122799555G>C	ENST00000245838.8	-	12	1355	c.1324C>G	c.(1324-1326)Ctt>Gtt	p.L442V	THOC2_ENST00000355725.4_Missense_Mutation_p.L442V|THOC2_ENST00000491737.1_Missense_Mutation_p.L327V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	442					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCGTGAGAAAGGTGAGGACCA	0.373000													23	123					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37130054	37130054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:37130054G>T	ENST00000588268.1	-	6	1420	c.1193C>A	c.(1192-1194)tCa>tAa	p.S398*	ZNF461_ENST00000360357.4_Nonsense_Mutation_p.S375*|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAGAAGCTTGAGTGATAGCT	0.408000													4	141					0.00909568	0.00917169	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413508	105413508	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr14:105413508C>T	ENST00000333244.5	-	7	8399	c.8280G>A	c.(8278-8280)ctG>ctA	p.L2760L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2760						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCACGT	0.597000													126	66					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283049	69283049	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:69283049G>A	ENST00000338352.2	+	1	709	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	225	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TGAGGGCCCTGTCGCACGTCC	0.617000													10	39					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76072585	76072585	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:76072585C>G	ENST00000393004.2	-	3	546	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000237172.7_Missense_Mutation_p.E109Q|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000419709.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.E10Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	109										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCAGAACCTCAGGCTTGGTT	0.502000													10	120					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60906117	60906117	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr20:60906117G>A	ENST00000252999.3	-	29	3687	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1207	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.I1207I(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGGCTGCTGATGCAGCTGA	0.692000													14	10					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146257592	146257592	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:146257592G>A	ENST00000394413.3	-	1	613	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	PPP2R2B_ENST00000394411.4_Silent_p.L15L|PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000394414.1_Silent_p.L81L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Intron|PPP2R2B_ENST00000356826.3_Silent_p.L15L|PPP2R2B_ENST00000453001.1_Silent_p.L15L|PPP2R2B_ENST00000394409.3_Silent_p.L73L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	15					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTCGCGCAGGAAACTGTTG	0.592000													13	48					0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524406	73524406	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:73524406G>A	ENST00000339534.2	+	1	382	c.305G>A	c.(304-306)cGt>cAt	p.R102H		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	102							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CATCTGGCTCGTGACTGTGAT	0.527000													29	48					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80403798	80403798	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:80403798C>T	ENST00000437807.2	-	6	557	c.240G>A	c.(238-240)ttG>ttA	p.L80L	C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000585080.1_Silent_p.L80L|C17orf62_ENST00000577732.1_Silent_p.L80L|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000585064.1_Silent_p.L80L|C17orf62_ENST00000583617.1_Silent_p.L80L|C17orf62_ENST00000578919.1_Silent_p.L80L|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000578913.1_Silent_p.L80L|C17orf62_ENST00000306645.5_Silent_p.L80L|C17orf62_ENST00000434650.2_Silent_p.L66L|C17orf62_ENST00000577436.1_Silent_p.L66L	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	80						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGAACGTCTTCAAAACAACCT	0.592000													5	18					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155271182	155271182	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:155271182G>A	ENST00000342741.4	-	1	43	c.5C>T	c.(4-6)tCg>tTg	p.S2L		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	2					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCCTGGATCGACATGCTTTC	0.512000													31	42					0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44621647	44621647	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:44621647G>A	ENST00000457408.2	-	1	211	c.159C>T	c.(157-159)atC>atT	p.I53I	TMED4_ENST00000481238.1_Splice_Site_p.I53I|TMED4_ENST00000444131.2_Intron|TMED4_ENST00000289577.5_Splice_Site_p.I53I	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	53	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCGCCTGACCGATGACCATGG	0.682000													4	3					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025451	102025451	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:102025451C>A	ENST00000549145.1	+	6	456	c.356C>A	c.(355-357)gCc>gAc	p.A119D	MYBPC1_ENST00000547509.1_Missense_Mutation_p.A92D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A131D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A106D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A106D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A80D|MYBPC1_ENST00000550270.1_Missense_Mutation_p.A106D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A106D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A93D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A106D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A131D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A106D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A106D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A94D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A7D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	106	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCCAGCAAAGCCGGGAAGCAC	0.502000													28	58					4.22769e-11	4.46188e-11	1	1	0
CARD11	84433	broad.mit.edu	37	7	2953089	2953089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:2953089C>A	ENST00000396946.4	-	22	3254	c.2851G>T	c.(2851-2853)Gag>Tag	p.E951*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	951					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCTCGCTCTCAGGGTCCAGC	0.687000			Mis		DLBCL								4	46					0.00024832	0.000255375	1	1	0
GPIHBP1	338328	broad.mit.edu	37	8	144295750	144295750	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:144295750G>C	ENST00000330824.2	+	2	181	c.106G>C	c.(106-108)Gat>Cat	p.D36H		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	36					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ccacgggccagatgactacga	0.622000													3	1					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956891	33956891	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:33956891G>C	ENST00000361328.3	+	6	1186	c.1033G>C	c.(1033-1035)Gaa>Caa	p.E345Q	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.E291Q	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	345					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCTTTCTCTGAAAAGCTCCG	0.527000													15	63					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96389491	96389491	+	Translation_Start_Site	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:96389491G>A	ENST00000541929.1	-	0	492				HAL_ENST00000538703.1_Silent_p.N66N|HAL_ENST00000261208.3_Silent_p.N66N	NM_001258333.1	NP_001245262.1	P42357	HUTH_HUMAN	histidine ammonia-lyase						biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.N66N(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GCCGGTCCTCGTTGTCCAGCA	0.622000													3	62					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662365	662365	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:662365G>C	ENST00000266383.5	+	14	1289	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	426						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGCAGGTTTTGAGGAAAACCT	0.478000													65	73					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35310598	35310598	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr9:35310598C>G	ENST00000378495.3	+	9	1118	c.896C>G	c.(895-897)tCt>tGt	p.S299C	UNC13B_ENST00000378496.4_Missense_Mutation_p.S299C|UNC13B_ENST00000396787.1_Missense_Mutation_p.S311C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	299					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCACAGCTCTCACAGCCTG	0.507000													4	87					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4884616	4884616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:4884616C>A	ENST00000361571.5	-	7	1012	c.601G>T	c.(601-603)Gag>Tag	p.E201*	CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.E207*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.E202*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.E204*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.E225*|CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.E202*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	202					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ACAGAGAACTCTTCTGTTCCA	0.557000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	48					1.5842e-08	1.66709e-08	1	1	0
TOX	9760	broad.mit.edu	37	8	59764334	59764334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:59764334G>A	ENST00000361421.1	-	4	662	c.442C>T	c.(442-444)Cag>Tag	p.Q148*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	148						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAACTGTACTGAGTTCCTTCT	0.403000													8	77					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	424317	424317	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:424317G>A	ENST00000431232.2	-	10	1819	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	TMEM8A_ENST00000250930.3_Silent_p.L360L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	553					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGAGGTTGCTGAGCGTGAGCA	0.642000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	31					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887309	3887309	+	Silent	SNP	C	C	A	rs142045330	byFrequency	TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:3887309C>A	ENST00000319331.3	+	2	1745	c.984C>A	c.(982-984)atC>atA	p.I328I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	328						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCTCTTACATCCACCGCTTGG	0.493000													10	44					3.86212e-05	3.99454e-05	1	1	0
NAGA	4668	broad.mit.edu	37	22	42456283	42456283	+	Nonstop_Mutation	SNP	T	T	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr22:42456283T>A	ENST00000396398.3	-	9	1768	c.1236A>T	c.(1234-1236)tgA>tgT	p.*412C	NAGA_ENST00000402937.1_Nonstop_Mutation_p.*412C|NAGA_ENST00000403363.1_Nonstop_Mutation_p.*412C	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	0					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCCCAGCTCCTCACTGCTGGG	0.572000													19	124					0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47013600	47013600	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:47013600C>T	ENST00000502492.1	-	5	736	c.354G>A	c.(352-354)ctG>ctA	p.L118L	SNF8_ENST00000290330.3_Silent_p.L118L|AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	118					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CCAAAGTTATCAGACCTGTTT	0.433000													13	30					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116187297	116187297	+	Splice_Site	SNP	A	A	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr9:116187297A>G	ENST00000288462.4	+	9	1253		c.e9-1		C9orf43_ENST00000374165.1_Splice_Site	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43											breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TTCTTTCTCCAGAGACCAGCA	0.408000													15	43					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33747303	33747303	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:33747303G>A	ENST00000539719.1	+	6	969	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	ZNF362_ENST00000373428.5_Missense_Mutation_p.A267T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTTGCCAACGCCTCCTACCT	0.592000													14	106					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325747	99325747	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:99325747G>A	ENST00000408927.3	+	7	870	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.E162K|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.E254K|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.E204K|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.E254K|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.E205K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	253							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCCATTGGCAGAAAATGGTGA	0.323000			T	NUP98	T-ALL								5	93					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334807	142334807	+	RNA	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:142334807G>A	ENST00000390394.3	+	0	307																											GCAAGGCGTCGAGAAGGACAA	0.517000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	71					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40886804	40886804	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:40886804G>A	ENST00000291823.2	-	3	1378	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	365						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCTGCGCAGCGAGAGCTGGTA	0.662000													16	105					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122780	18122780	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:18122780C>T	ENST00000340650.3	-	1	71	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	20					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGCTGATCTCCGCCTCGCGC	0.716000													10	66					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931751	46931751	+	Silent	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr22:46931751G>T	ENST00000262738.3	-	1	1316	c.1317C>A	c.(1315-1317)ctC>ctA	p.L439L	CELSR1_ENST00000395964.1_Silent_p.L439L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	439	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGTGGCACTGAGCGGGCCCG	0.677000													7	51					0.27861	0.27861	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590076	140590076	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:140590076G>A	ENST00000239450.2	+	1	1786	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A196T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		533	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCACAGACCA	0.677000													38	63					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182872003	182872003	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr3:182872003G>T	ENST00000265598.3	-	2	481	c.226C>A	c.(226-228)Caa>Aaa	p.Q76K	LAMP3_ENST00000466939.1_Missense_Mutation_p.Q52K	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	76	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCCGCTGTTTGAAAGGTGATA	0.468000													79	76					1.48072e-28	1.63421e-28	1	1	0
SYT10	341359	broad.mit.edu	37	12	33579312	33579312	+	Silent	SNP	A	A	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:33579312A>T	ENST00000228567.3	-	2	566	c.270T>A	c.(268-270)acT>acA	p.T90T	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	90						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGATGTTGGAAGTCACAGGTT	0.438000													28	47					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109831922	109831922	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:109831922T>C	ENST00000356711.2	+	34	5416	c.5290T>C	c.(5290-5292)Tct>Cct	p.S1764P	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000357550.2_Missense_Mutation_p.S1764P	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1764					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCACGGTTGTCTATAAGTGG	0.438000													3	36					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120117787	120117787	+	Missense_Mutation	SNP	T	T	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:120117787T>G	ENST00000229328.5	+	6	1208	c.716T>G	c.(715-717)cTa>cGa	p.L239R	PRKAB1_ENST00000540121.1_Missense_Mutation_p.L73R|PRKAB1_ENST00000541640.1_Missense_Mutation_p.L239R	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	239					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CTGAACCACCTATACGCGCTG	0.532000													17	51					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025811	102025811	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:102025811G>A	ENST00000549145.1	+	7	515	c.415G>A	c.(415-417)Gag>Aag	p.E139K	MYBPC1_ENST00000547509.1_Missense_Mutation_p.E112K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E151K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E126K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E100K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E113K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E126K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E151K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E126K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E114K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E27K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	126	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTACACATTTGAGATGCAGAT	0.393000													44	55					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73570736	73570736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:73570736C>A	ENST00000167462.5	+	24	3129	c.2999C>A	c.(2998-3000)tCa>tAa	p.S1000*	LLGL2_ENST00000577200.1_Silent_p.L1014L|LLGL2_ENST00000392550.3_Silent_p.L1014L	NM_004524.2	NP_004515.2	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	0					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGTGCAGCCTCAGCAATGGCG	0.677000													5	28					5.9392e-07	6.21385e-07	1	1	0
LONP1	9361	broad.mit.edu	37	19	5711811	5711811	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:5711811C>G	ENST00000360614.3	-	4	998	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	LONP1_ENST00000590729.1_Intron|LONP1_ENST00000540670.2_Missense_Mutation_p.E85Q|LONP1_ENST00000585374.1_Missense_Mutation_p.E167Q|LONP1_ENST00000593119.1_Missense_Mutation_p.E217Q	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	281	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGAAGTCCTCGTGGACAACG	0.682000													15	101					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849295	98849295	+	RNA	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:98849295G>C	ENST00000554295.1	-	0	1628					NR_033801.1																						AGGGCTCCTTGATGCTAACTC	0.502000													4	11					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	114					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396887	71396887	+	Silent	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:71396887C>A	ENST00000339336.4	+	8	619	c.489C>A	c.(487-489)gcC>gcA	p.A163A	AMTN_ENST00000504451.1_Silent_p.A162A	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	163					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TAAATCCTGCCACCCAGGGAA	0.612000													15	26					0.00244969	0.00249098	1	1	0
EPPIN	57119	broad.mit.edu	37	20	44170784	44170784	+	Nonstop_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr20:44170784C>A	ENST00000354280.4	-	4	467	c.401G>T	c.(400-402)tGa>tTa	p.*134L	EPPIN_ENST00000409554.1_3'UTR|EPPIN_ENST00000555685.1_Intron|EPPIN_ENST00000336443.3_Nonstop_Mutation_p.*118L|EPPIN-WFDC6_ENST00000504988.1_Intron	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor																		CTTATCCAATCAGGGAAAGCC	0.473000													39	51					3.43241e-23	3.76525e-23	1	1	0
PLEC	5339	broad.mit.edu	37	8	145049522	145049522	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:145049522C>A	ENST00000436759.2	-	2	53	c.16G>T	c.(16-18)Gct>Tct	p.A6S	PLEC_ENST00000527096.1_Missense_Mutation_p.A6S	NM_000445.3	NP_000436.2	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGACCTCAGCGTCCTCACCC	0.627000											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	39					3.07112e-06	3.20387e-06	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150643986	150643986	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:150643986G>A	ENST00000392968.2	-	12	4141	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	KCNH2_ENST00000262186.5_Silent_p.L1103L|KCNH2_ENST00000330883.4_Silent_p.L763L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1103					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGTCCAAGGTGAGGGTGGGGA	0.642000													28	34					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669887	24669887	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr10:24669887G>A	ENST00000376454.3	+	3	474	c.444G>A	c.(442-444)ttG>ttA	p.L148L	KIAA1217_ENST00000430453.2_Silent_p.L69L|KIAA1217_ENST00000376452.3_Silent_p.L148L|KIAA1217_ENST00000376462.1_Silent_p.L68L|KIAA1217_ENST00000458595.1_Silent_p.L148L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	148					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGATTCTTTGGAAGCCATGT	0.557000													31	5					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51048316	51048316	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:51048316C>G	ENST00000396153.2	-	12	1538	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	FAF1_ENST00000371778.4_Missense_Mutation_p.E363Q|FAF1_ENST00000545823.1_Missense_Mutation_p.E121Q|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	363					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TAGAAGGCCTCTTGAAAAGCA	0.368000													35	63					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54584908	54584908	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:54584908C>T	ENST00000336470.4	+	15	1625	c.1486C>T	c.(1486-1488)Cat>Tat	p.H496Y	GNL3L_ENST00000360845.2_Missense_Mutation_p.H496Y	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	496					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCCGAACCGTCATCAGATGGG	0.517000													41	105					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47188426	47188426	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:47188426C>T	ENST00000524782.1	-	13	1445	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.R299Q|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.R137Q|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.R270Q|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	406	Required for interaction with coatomer.		R -> W (in dbSNP:rs35950498).		protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CACTTCCCTCCGGTTTGTGGC	0.562000													13	122					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37215825	37215825	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:37215825G>A	ENST00000233099.5	-	35	5970	c.5875C>T	c.(5875-5877)Ctt>Ttt	p.L1959F	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L1870F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1959							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGTGTTTCAAGAACTTTTATT	0.333000													59	77					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9815249	9815249	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:9815249C>A	ENST00000377298.4	-	4	1155	c.363G>T	c.(361-363)caG>caT	p.Q121H	CLSTN1_ENST00000377288.3_Missense_Mutation_p.Q121H|CLSTN1_ENST00000361311.4_Missense_Mutation_p.Q111H	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	121	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATAGTCTTTCTGCAGCTCAC	0.468000													31	207					4.74835e-14	5.08552e-14	1	1	0
MAP10	54627	broad.mit.edu	37	1	232941094	232941094	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:232941094G>T	ENST00000418460.1	+	1	452	c.325G>T	c.(325-327)Gat>Tat	p.D109Y		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AATCTCGCGAGATAGCAGGCA	0.602000													30	38					3.1745e-13	3.3799e-13	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	12					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159684233	159684233	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:159684233G>A	ENST00000255030.5	-	1	146	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	CRP_ENST00000343919.2_Missense_Mutation_p.H15Y|CRP_ENST00000368112.1_Missense_Mutation_p.H15Y|CRP_ENST00000368111.1_Missense_Mutation_p.H15Y|CRP_ENST00000368110.1_Missense_Mutation_p.H15Y|CRP_ENST00000437342.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	15					acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CCAAAAGCATGAGAGAGGCTG	0.502000													13	30					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42232492	42232492	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:42232492C>T	ENST00000541110.1	-	7	2153	c.1585G>A	c.(1585-1587)Ggc>Agc	p.G529S	TRERF1_ENST00000340840.2_Missense_Mutation_p.G529S|TRERF1_ENST00000372922.4_Missense_Mutation_p.G529S|TRERF1_ENST00000354325.2_Missense_Mutation_p.G529S|TRERF1_ENST00000372917.4_Missense_Mutation_p.G529S			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	529	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)			CGCATGTGGCCATTCAGGGCA	0.572000													6	73					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094363	77094363	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:77094363G>A	ENST00000328299.3	+	5	938	c.790G>A	c.(790-792)Gat>Aat	p.D264N		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	264					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGATGAGTGTGATGAATATTT	0.363000													24	57					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974521	49974521	+	Missense_Mutation	SNP	A	A	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:49974521A>T	ENST00000555099.1	+	1	579	c.547A>T	c.(547-549)Atc>Ttc	p.I183F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTACACTTTGATCAATCTTGC	0.433000													45	41					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40849740	40849740	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:40849740C>A	ENST00000264638.4	+	22	3954	c.3737C>A	c.(3736-3738)tCc>tAc	p.S1246Y	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1246	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGAGAACTGTCCGAATCTAAT	0.557000													5	152					0.014758	0.01484	1	1	0
MAT2A	4144	broad.mit.edu	37	2	85770894	85770894	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:85770894G>A	ENST00000306434.3	+	9	1310	c.1187G>A	c.(1186-1188)tGa>tAa	p.*396*		NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	0					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTAAATATTGAAAGTGTTAG	0.478000													5	8					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808572	144808572	+	Missense_Mutation	SNP	C	C	T	rs117987215	by1000genomes	TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:144808572C>T	ENST00000388913.3	-	5	3184	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1020					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGCGCGCCCGCGGACCCCG	0.667000													15	9					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161277101	161277101	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:161277101C>T	ENST00000533357.1	-	2	247	c.181G>A	c.(181-183)Gac>Aac	p.D61N	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.D71N|MPZ_ENST00000336559.4_Missense_Mutation_p.D61N	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	61	Ig-like V-type.		D -> G (in CMT2; unclassified).		synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGAGATGTCATCTGAGACC	0.597000													19	23					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505444	57505444	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:57505444C>G	ENST00000278422.4	+	3	322	c.310C>G	c.(310-312)Ctt>Gtt	p.L104V	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	104					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CAACACAATTCTTTTCTTCCG	0.428000													78	17					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241920614	241920614	+	Silent	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:241920614G>T	ENST00000366552.2	+	14	1977	c.1770G>T	c.(1768-1770)gtG>gtT	p.V590V	WDR64_ENST00000437684.2_Silent_p.V590V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	590										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACCTCATGGTGATCTGGGAGC	0.398000													41	35					6.4771e-29	7.17037e-29	1	1	0
TMEM178A	130733	broad.mit.edu	37	2	39934286	39934286	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:39934286C>T	ENST00000281961.2	+	3	668	c.612C>T	c.(610-612)agC>agT	p.S204S	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		GGGAGGAGAGCTTGACCCAGC	0.582000													4	26					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450174	54450174	+	Missense_Mutation	SNP	C	C	T	rs143082022		TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:54450174C>T	ENST00000566473.2	+	6	778	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R260C			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	260										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCTACAGACGCATGAAAAC	0.468000													23	213					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45219678	45219678	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:45219678A>G	ENST00000066544.3	-	11	1388	c.1295T>C	c.(1294-1296)tTg>tCg	p.L432S	CDC27_ENST00000531206.1_Missense_Mutation_p.L438S|CDC27_ENST00000527547.1_Missense_Mutation_p.L432S|CDC27_ENST00000446365.2_Missense_Mutation_p.L371S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L438S(1)|p.L432S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGAAGAGTCCAATTTTGTAAT	0.343000													3	49					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47565597	47565597	+	Splice_Site	SNP	G	G	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:47565597G>T	ENST00000273859.3	+	15	2937		c.e15-1			NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D						ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTATTTTTTAGGTGCTACTGG	0.458000													29	38					9.39395e-14	1.00313e-13	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38655271	38655271	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:38655271C>T	ENST00000222345.6	+	15	4442	c.3933C>T	c.(3931-3933)atC>atT	p.I1311I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1311					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAGCGGCATCGACACCACCC	0.652000													16	19					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479677	161479677	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:161479677C>A	ENST00000271450.6	+	4	470	c.432C>A	c.(430-432)caC>caA	p.H144Q	FCGR2A_ENST00000367972.4_Missense_Mutation_p.H143Q	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	144	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAGGTGCCACAGCTGGAAGG	0.483000													44	86					2.35958e-20	2.56507e-20	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22940696	22940696	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:22940696G>A	ENST00000397104.3	-	5	1741	c.1742C>T	c.(1741-1743)aCt>aTt	p.T581I	ZNF99_ENST00000596209.1_Missense_Mutation_p.T672I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTCTTCAGTATGAATTAC	0.368000													8	107					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349474	150349474	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:150349474C>A	ENST00000218316.3	+	2	1488	c.1419C>A	c.(1417-1419)aaC>aaA	p.N473K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	473	Pro-rich.				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)					CTTCCAGCAACCCCAAGCCCA	0.552000													65	309					6.12789e-21	6.68161e-21	1	1	0
PGAP2	27315	broad.mit.edu	37	11	3845614	3845614	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:3845614C>G	ENST00000493547.2	+	5	611	c.533C>G	c.(532-534)tCt>tGt	p.S178C	PGAP2_ENST00000396991.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000278243.4_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000532017.1_Intron	NM_001256238.1	NP_001243167.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	0					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GAGGTACGGTCTATCCCTAGC	0.527000											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	50					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57398238	57398238	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr6:57398238A>G	ENST00000607273.1	+	10	1028	c.941A>G	c.(940-942)aAg>aGg	p.K314R	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	314					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTATTTCTGAAGGGCATTGGT	0.388000													10	143					0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27187544	27187544	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:27187544C>T	ENST00000254928.5	+	10	1384	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	429	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ATGTTGACATCCGCCTCTCTG	0.567000													5	88					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178660	223178660	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:223178660G>A	ENST00000284476.6	+	8	4085	c.3921G>A	c.(3919-3921)caG>caA	p.Q1307Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1307					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.Q1307H(1)		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)		GCTTTGTCCAGATCCAAAACG	0.577000													48	111					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50587216	50587216	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:50587216C>T	ENST00000378182.3	+	2	1878	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	TRIM13_ENST00000356017.4_Silent_p.F383F|TRIM13_ENST00000298772.5_Silent_p.F383F|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Silent_p.F380F|TRIM13_ENST00000420995.2_Silent_p.F380F	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	380					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		ATGGGTTTTTCATTTTCAATG	0.333000													54	82					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543601	141543601	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:141543601G>A	ENST00000442267.2	-	21	3623	c.3549C>T	c.(3547-3549)atC>atT	p.I1183I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1183						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGTCCTCTCCGATGTCCTCGC	0.657000													12	29					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55583058	55583058	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr10:55583058C>T	ENST00000361849.3	-	34	4828	c.4434G>A	c.(4432-4434)agG>agA	p.R1478R	PCDH15_ENST00000320301.6_Silent_p.R1476R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.R1436R|PCDH15_ENST00000395433.1_Silent_p.R1453R|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Silent_p.R1473R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R1407R|PCDH15_ENST00000395442.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1476					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATGTTTCCTGTCTTCTG	0.383000										HNSCC(58;0.16)			3	47					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103277499	103277499	+	Missense_Mutation	SNP	T	T	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr8:103277499T>G	ENST00000520539.1	-	53	8036	c.7430A>C	c.(7429-7431)aAc>aCc	p.N2477T	UBR5_ENST00000518205.1_Missense_Mutation_p.N205T|UBR5_ENST00000521922.1_Missense_Mutation_p.N2470T|UBR5_ENST00000220959.4_Missense_Mutation_p.N2476T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2477	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCGCTTTCGGTTTTCCTGCTA	0.393000													3	52					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407522	9407522	+	Silent	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:9407522G>C	ENST00000591998.1	-	6	786	c.558C>G	c.(556-558)ctC>ctG	p.L186L	ZNF699_ENST00000308650.3_Silent_p.L186L			Q32M78	ZN699_HUMAN	zinc finger protein 699	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TATTTCTCTTGAGTGAATCAA	0.363000													47	74					0	0	1	0	0
RPS4X	6191	broad.mit.edu	37	X	71495439	71495439	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:71495439C>T	ENST00000316084.6	-	3	321	c.217G>A	c.(217-219)Gat>Aat	p.D73N	RPS4X_ENST00000373626.3_Missense_Mutation_p.D73N|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	73	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					ACCTTGCCATCGATTTTAATG	0.443000													28	49					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427660	119427660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:119427660G>A	ENST00000369429.3	-	8	1513	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	TBX15_ENST00000207157.3_Nonsense_Mutation_p.Q396*			Q96SF7	TBX15_HUMAN	T-box 15	502						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAGCTCTGCTGCATGTGGCTG	0.542000													21	14					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10214487	10214487	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:10214487G>A	ENST00000418404.3	-	32	4752	c.4589C>T	c.(4588-4590)gCg>gTg	p.A1530V	MYH13_ENST00000252172.4_Missense_Mutation_p.A1530V|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1530					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						GGTCTTTTCCGCTTCCTGAAG	0.448000													29	12					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54387461	54387461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:54387461C>T	ENST00000542049.1	+	2	79	c.22C>T	c.(22-24)Cga>Tga	p.R8*	PRKCG_ENST00000263431.3_Silent_p.F83F|PRKCG_ENST00000540413.1_Silent_p.F83F|PRKCG_ENST00000536044.1_Silent_p.F83F			P05129	KPCG_HUMAN	protein kinase C, gamma	0					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTGTGACCTTCGAGTGTCCAG	0.602000													61	80					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977693	30977693	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:30977693G>A	ENST00000262519.8	+	8	3177	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	831					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGAGAGCAAGGAGGAGAAGGC	0.627000													9	36					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44116189	44116189	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:44116189C>T	ENST00000242248.5	-	6	855	c.754G>A	c.(754-756)Gac>Aac	p.D252N	POLM_ENST00000492971.1_5'UTR|POLM_ENST00000395831.3_Intron|POLM_ENST00000335195.6_Missense_Mutation_p.D252N	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	252					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.D252Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TACCACCGGTCAGCAGTCTTC	0.597000								DNA polymerases (catalytic subunits)					35	49					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65444452	65444452	+	Silent	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:65444452G>A	ENST00000304895.4	-	4	788	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.L220L|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	220					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GTCGTGTACAGAAGTACAGAC	0.527000													12	61					0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333583	41333583	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:41333583G>A	ENST00000342595.2	+	2	1333	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	NYX_ENST00000378220.1_Missense_Mutation_p.V293M	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	293					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CATCGCCTTCGTGGAGGAGGG	0.692000													12	61					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924178	105924178	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:105924178C>G	ENST00000526793.1	-	3	1397	c.1238G>C	c.(1237-1239)aGa>aCa	p.R413T	KBTBD3_ENST00000534815.1_Missense_Mutation_p.R334T|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R413T	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	409										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CCGGGATCCTCTAGTTTTTCC	0.363000													43	11					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100279616	100279616	+	Splice_Site	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:100279616C>G	ENST00000275732.5	-	23	4135	c.2926G>C	c.(2926-2928)Gag>Cag	p.E976Q		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	976										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGCCATGCCTCCTAAGGCAGC	0.692000													15	17					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387242	70387242	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:70387242C>G	ENST00000374051.3	+	6	1557	c.1235C>G	c.(1234-1236)tCc>tGc	p.S412C	NLGN3_ENST00000536169.1_Missense_Mutation_p.S392C|NLGN3_ENST00000358741.3_Missense_Mutation_p.S432C|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	432					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TTTGACTATTCCGTCTCCAAT	0.512000													23	40					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683744	159683744	+	Silent	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:159683744G>C	ENST00000255030.5	-	2	349	c.246C>G	c.(244-246)ctC>ctG	p.L82L	CRP_ENST00000343919.2_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	82	Pentaxin.			Missing (in Ref. 13; AA sequence).|YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ACCAAAATATGAGAATCTCAT	0.438000													50	60					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453298	100453298	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:100453298G>A	ENST00000279907.7	-	14	1969	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S236F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	586										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTCACTTCAGAAGGAATGAC	0.363000													8	39					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3765339	3765339	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr20:3765339G>C	ENST00000379751.4	-	1	1998	c.1792C>G	c.(1792-1794)Caa>Gaa	p.Q598E		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	598					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ACTCAGCTTTGATGTCCAAGA	0.602000													37	59					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91527346	91527346	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr15:91527346C>T	ENST00000361188.5	-	3	1380	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.E57K|PRC1_ENST00000442656.2_Intron|PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000361919.3_Missense_Mutation_p.E57K			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	57	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTTCCTCTTCAGCAATCATC	0.443000													26	269					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856797	72856797	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:72856797G>A	ENST00000339594.4	-	19	4519	c.4181C>T	c.(4180-4182)tCc>tTc	p.S1394F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S1394F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1394	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTCCCACAGGAACATTTGTT	0.512000													72	83					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634688	83634688	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr7:83634688C>T	ENST00000265362.4	-	11	1641	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D443N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TACTGTCCATCTTCTGCATCC	0.338000													5	143					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883314	52883314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:52883314G>A	ENST00000343457.3	-	1	472	c.466C>T	c.(466-468)Caa>Taa	p.Q156*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	156						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTATTTCTTTGAAGAATGAGC	0.428000													57	83					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64701804	64701804	+	Silent	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr14:64701804C>G	ENST00000557772.1	-	7	1289	c.1290G>C	c.(1288-1290)ctG>ctC	p.L430L	ESR2_ENST00000353772.3_Silent_p.L430L|ESR2_ENST00000542956.1_Silent_p.L430L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.L430L|ESR2_ENST00000553796.1_Silent_p.L430L|ESR2_ENST00000357782.2_Silent_p.L430L|ESR2_ENST00000341099.4_Silent_p.L430L|ESR2_ENST00000554572.1_Silent_p.L430L|ESR2_ENST00000555278.1_Silent_p.L430L|ESR2_ENST00000267525.6_Silent_p.L339L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	430	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCACGGCGTTCAGCAAGTGAG	0.562000													33	14					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450090	85450090	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:85450090G>A	ENST00000393217.2	+	8	1580	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	507										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAAATACAGATAACAAAAC	0.294000													37	48					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863734	176863734	+	Silent	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:176863734G>C	ENST00000367654.3	-	17	3139	c.2928C>G	c.(2926-2928)ccC>ccG	p.P976P	ASTN1_ENST00000424564.2_Silent_p.P968P|ASTN1_ENST00000361833.2_Silent_p.P968P|ASTN1_ENST00000367657.3_Silent_p.P968P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTTCATAGATGGGGGCTGCTT	0.587000													7	73					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50390927	50390927	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr12:50390927G>C	ENST00000434422.1	-	11	1241	c.940C>G	c.(940-942)Ctg>Gtg	p.L314V	RACGAP1_ENST00000427314.2_Missense_Mutation_p.L314V|RACGAP1_ENST00000547905.1_Missense_Mutation_p.L314V|RACGAP1_ENST00000454520.2_Missense_Mutation_p.L314V|RACGAP1_ENST00000551016.1_Missense_Mutation_p.L314V|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000312377.5_Missense_Mutation_p.L314V			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	314					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CGACACTTCAGAGATAATTTG	0.463000													40	51					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60799867	60799867	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:60799867C>T	ENST00000544856.2	-	9	2571	c.2193G>A	c.(2191-2193)caG>caA	p.Q731Q	MARCH10_ENST00000456609.2_Silent_p.Q732Q|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Silent_p.Q770Q|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Silent_p.Q732Q|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	732							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTGGTGCTTCTGGTAGAACT	0.493000													11	35					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250877	21250877	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr11:21250877G>A	ENST00000298925.5	+	15	1663		c.e15-1		NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000357134.5_Splice_Site			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGGAAACAGAACACGATGA	0.458000													14	9					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57763092	57763092	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:57763092G>C	ENST00000269122.3	+	30	5024	c.4750G>C	c.(4750-4752)Gaa>Caa	p.E1584Q	CLTC_ENST00000579456.1_Missense_Mutation_p.E521Q|CLTC_ENST00000393043.1_Missense_Mutation_p.E1584Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1584	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTCGTCCTAGAAACTGCATG	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """								5	170					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51754579	51754579	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:51754579C>T	ENST00000447632.2	-	17	1698	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	TTC39A_ENST00000451380.1_Silent_p.L514L|TTC39A_ENST00000262675.7_Silent_p.L487L|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000530004.1_Silent_p.L158L|TTC39A_ENST00000413473.2_Silent_p.L518L|TTC39A_ENST00000371750.5_Silent_p.L515L			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	550							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGGCCAGCTCCAGCAGGGCGT	0.498000													5	9					0	0	1	0	0
CHMP3	51652	broad.mit.edu	37	2	86732977	86732977	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:86732977C>T	ENST00000263856.4	-	6	747	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	CHMP3_ENST00000409727.1_Missense_Mutation_p.E167K|CHMP3_ENST00000439940.2_Missense_Mutation_p.E236K|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.E236K|CHMP3_ENST00000409225.2_Missense_Mutation_p.E141K	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		AGAGCCTCTTCCTCCTCCTCC	0.622000													36	43					0	0	1	0	0
TIGD7	91151	broad.mit.edu	37	16	3350600	3350600	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:3350600C>T	ENST00000396862.1	-	2	1843	c.15G>A	c.(13-15)ggG>ggA	p.G5G	TIGD7_ENST00000268674.2_Silent_p.G5G	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	5	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTGTATATTTCCCTCTCTTAT	0.333000													24	40					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70502124	70502124	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:70502124C>T	ENST00000433351.2	+	4	556	c.528C>T	c.(526-528)ttC>ttT	p.F176F	PCYOX1_ENST00000545138.1_Silent_p.F98F|PCYOX1_ENST00000264441.5_Silent_p.F176F|PCYOX1_ENST00000505044.2_Silent_p.F99F	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	176					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						ACTATGCCTTCAGTAGTGTCG	0.418000													19	114					0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113826315	113826315	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr13:113826315C>A	ENST00000342783.4	+	9	1172	c.1165C>A	c.(1165-1167)Ctc>Atc	p.L389I	PROZ_ENST00000375547.2_Missense_Mutation_p.L367I	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	367	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	CTCCTGGTTTCTCACGGGGGT	0.567000													37	34					3.62531e-18	3.9175e-18	1	1	0
NUMBL	9253	broad.mit.edu	37	19	41179340	41179340	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr19:41179340C>T	ENST00000252891.4	-	8	1112	c.945G>A	c.(943-945)aaG>aaA	p.K315K	NUMBL_ENST00000598779.1_Silent_p.K274K|NUMBL_ENST00000540131.1_Silent_p.K274K	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	315					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AAGGCGAGTTCTTCTGGCTGA	0.657000													10	13					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35867468	35867468	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:35867468C>G	ENST00000303115.3	+	3	411	c.282C>G	c.(280-282)atC>atG	p.I94M	IL7R_ENST00000506850.1_Missense_Mutation_p.I94M|IL7R_ENST00000343305.4_Missense_Mutation_p.I94M|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000511982.1_Missense_Mutation_p.I94M	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	94					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.I94I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TATATTTCATCGAGACAAAGA	0.388000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						4	71					0	0	1	0	0
C16orf13	84326	broad.mit.edu	37	16	685684	685684	+	Silent	SNP	C	C	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr16:685684C>T	ENST00000301686.8	-	2	299	c.288G>A	c.(286-288)ggG>ggA	p.G96G	C16orf13_ENST00000397666.2_Silent_p.G96G|C16orf13_ENST00000338401.4_Intron|C16orf13_ENST00000397665.2_Silent_p.G96G|C16orf13_ENST00000397664.4_Intron	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	96										large_intestine(1)	1		Hepatocellular(780;0.00335)				GTGGCAGGATCCCGCCCCAGT	0.672000													2	1					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120844808	120844808	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:120844808G>A	ENST00000263713.5	+	11	1079	c.865G>A	c.(865-867)Gat>Aat	p.D289N	EPB41L5_ENST00000452780.1_Missense_Mutation_p.D289N|EPB41L5_ENST00000443124.1_Missense_Mutation_p.D289N|EPB41L5_ENST00000331393.4_Missense_Mutation_p.D289N|EPB41L5_ENST00000443902.2_Missense_Mutation_p.D289N	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	289	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGTAGAAGATGATGATCAGGT	0.299000													18	30					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239079285	239079285	+	Silent	SNP	G	G	A	rs148149268	by1000genomes	TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr2:239079285G>A	ENST00000254654.3	-	12	1246	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	357	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CGTCGGCTGCGGACTTCCCTT	0.597000													17	35					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54114294	54114294	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chrX:54114294C>A	ENST00000375180.2	-	12	2587	c.2531G>T	c.(2530-2532)tGg>tTg	p.W844L	FAM120C_ENST00000328235.4_Intron	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	844										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAATGCTCCCAAGGGACTGG	0.522000													17	60					3.32936e-07	3.49341e-07	1	1	0
LRRTM3	347731	broad.mit.edu	37	10	68857439	68857439	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr10:68857439C>A	ENST00000361320.4	+	3	2209	c.1631C>A	c.(1630-1632)tCc>tAc	p.S544Y	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	544						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCCCATAAGTCCTTTGAAACG	0.463000													13	37					1.49906e-05	1.5549e-05	1	1	0
KRT35	3886	broad.mit.edu	37	17	39633417	39633417	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:39633417G>C	ENST00000246639.2	-	7	1301	c.1169C>G	c.(1168-1170)tCc>tGc	p.S390C	KRT35_ENST00000393989.1_Missense_Mutation_p.S420C			Q92764	KRT35_HUMAN	keratin 35	420	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCATGACTTGGAGGGTGAGTA	0.542000													10	53					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70806368	70806368	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr5:70806368G>A	ENST00000358731.4	+	17	3712	c.3449G>A	c.(3448-3450)aGa>aAa	p.R1150K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1150	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAACTGGAAGAAGAGAAATA	0.468000													4	118					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21071377	21071378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr1:21071377_21071378insT	ENST00000375003.2	-	9	2618_2619	c.1118_1119insA	c.(1117-1119)aagfs	p.K373fs	HP1BP3_ENST00000312239.5_Frame_Shift_Ins_p.K525fs			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	525	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTGCAGGCTTCTTTGAGGAGCC	0.465													22	106	---	---	---	---					
SLAIN2	57606	broad.mit.edu	37	4	48344125	48344127	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr4:48344125_48344127delGGA	ENST00000264313.6	+	1	787_789	c.369_371delGGA	c.(367-372)tgggag>tgg	p.E128del		NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	128	Poly-Glu.					centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TGTCAGGCTGGGAGGAGGAGGAG	0.754													2	4	---	---	---	---					
BRIP1	83990	broad.mit.edu	37	17	59761031	59761031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2F-A9KR-01A-11D-A38G-08	TCGA-2F-A9KR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680ee6c2-0510-4ff5-80b1-1f14c38cba06	1ba18d21-3d71-47e5-b8d7-96e282c265bc	g.chr17:59761031delC	ENST00000259008.2	-	20	3643	c.3376delG	c.(3376-3378)gaafs	p.E1126fs		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1126					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GATTCATCTTCTGCTTCTGTT	0.363			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					39	94	---	---	---	---