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
FHL1	2273	broad.mit.edu	37	X	135290740	135290740	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:135290740G>A	uc004ezo.3	+	5	957	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	FHL1_uc010nrz.2_Missense_Mutation_p.V210M|FHL1_uc004ezq.2_Intron|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_Missense_Mutation_p.V210M|FHL1_uc011mvy.1_Missense_Mutation_p.V210M|FHL1_uc004ezn.2_Missense_Mutation_p.V210M|FHL1_uc022ceu.1_Missense_Mutation_p.V210M|FHL1_uc011mwa.1_Missense_Mutation_p.V239M|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.V226M|FHL1_uc004ezr.2_Silent_p.A28A	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	210	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTATTACTGCGTGGATTGCTA	0.527000													115	42					0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39522980	39522980	+	Silent	SNP	A	A	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:39522980A>G	uc003guk.2	-	1	476	c.153T>C	c.(151-153)ccT>ccC	p.P51P	UGDH_uc011byp.2_Intron|UGDH_uc003gul.2_Silent_p.P51P	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	51					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CCTCATAAATAGGAAGTGTAG	0.303000													13	84					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163187	163187	+	RNA	SNP	T	T	C	rs143599805	by1000genomes	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr8:163187T>C	uc010lra.3	-	3		c.946A>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TGAAAAACATTATTCTTTTAT	0.294000													3	23					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	726159	726159	+	Silent	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr19:726159G>A	uc002lpm.1	+	1	221	c.27G>A	c.(25-27)acG>acA	p.T9T	PALM_uc010xft.2_Silent_p.T9T|PALM_uc002lpn.1_Silent_p.T9T|PALM_uc010xfu.1_5'Flank	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	9					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		CAGAGACCACGTCCCAGCAGG	0.672000													33	79					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97019969	97019969	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:97019969G>T	uc002svz.1	+	8	1135	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	NCAPH_uc010fhu.1_Missense_Mutation_p.D327Y|NCAPH_uc010fhv.1_Missense_Mutation_p.D340Y|NCAPH_uc010yum.1_Missense_Mutation_p.D327Y|NCAPH_uc010yun.1_Missense_Mutation_p.D215Y	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	351					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGTATTTGACATCAATGC	0.493000													56	147					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073401	17073401	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr22:17073401G>A	uc002zlp.1	-	0	300	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	14					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTGCCAGCCGCTGGGGCAGC	0.637000													25	37					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219259418	219259418	+	Silent	SNP	G	G	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:219259418G>T	uc002vhv.3	+	13	1792	c.1452G>T	c.(1450-1452)gtG>gtT	p.V484V	SLC11A1_uc010zkc.1_Silent_p.V417V|SLC11A1_uc002vhu.1_Silent_p.V279V|SLC11A1_uc002vhw.3_Silent_p.V366V|SLC11A1_uc010fvr.3_Silent_p.V279V	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	484					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACTTCGTGGTCAGCTATC	0.612000													12	121					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270015	114270015	+	Silent	SNP	A	A	G	rs146945410	byFrequency	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:114270015A>G	uc003vhb.3	+	4	926	c.552A>G	c.(550-552)caA>caG	p.Q184Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q209Q|FOXP2_uc003vha.3_Silent_p.Q92Q|FOXP2_uc011kmv.2_Silent_p.Q184Q|FOXP2_uc011kmu.2_Silent_p.Q201Q|FOXP2_uc010ljz.2_Silent_p.Q92Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q184Q|FOXP2_uc003vgx.2_Silent_p.Q184Q|FOXP2_uc003vhc.3_Silent_p.Q209Q|FOXP2_uc003vhd.3_Silent_p.Q184Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	184	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacagcagcagc	0.502000													4	76					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968542	106968542	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr6:106968542T>G	uc003prh.3	+	1	3147	c.2235T>G	c.(2233-2235)gaT>gaG	p.D745E		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	745							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTGTTTGATCCCAAAGTGT	0.443000													4	104					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391983	23391983	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr16:23391983C>T	uc002dln.3	+	12	1960	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	595					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTGACACGGCCCCCCGCAGC	0.711000													26	59					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756464	56756464	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr11:56756464A>G	uc010rjp.2	+	0	76	c.76A>G	c.(76-78)Atc>Gtc	p.I26V		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTTTTGGTGTATCCTCTTCAT	0.398000													4	135					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260022	35260022	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:35260022T>G	uc009vul.3	+	1	460	c.436T>G	c.(436-438)Ttc>Gtc	p.F146V	GJA4_uc001bya.3_Missense_Mutation_p.F70V|GJA4_uc009vum.1_Missense_Mutation_p.F70V|GJA4_uc021olb.1_Missense_Mutation_p.F70V	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	70					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGACCAGGCCTTCCCCATCTC	0.607000													5	112					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593944	16593944	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:16593944G>T	uc002gqk.1	+	0	306	c.230G>T	c.(229-231)cGc>cTc	p.R77L		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	77																	CACGACGTCCGCCTGGAAGAT	0.647000													7	167					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133813	91133813	+	Silent	SNP	C	C	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:91133813C>T	uc004efk.2	+	1	3419	c.2574C>T	c.(2572-2574)aaC>aaT	p.N858N	PCDH11X_uc004efl.2_Silent_p.N858N|PCDH11X_uc010nmv.2_Silent_p.N858N|PCDH11X_uc004efm.2_Silent_p.N858N|PCDH11X_uc004efn.2_Silent_p.N858N|PCDH11X_uc004efo.2_Silent_p.N858N|PCDH11X_uc004efh.2_Silent_p.N858N|PCDH11X_uc004efj.1_Silent_p.N858N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	858					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTACCCCAAACCCAGAAAACA	0.393000													31	13					0	0	1	0	0
GNGT1	2792	broad.mit.edu	37	7	93536062	93536062	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:93536062C>A	uc003unc.1	+	1	152	c.4C>A	c.(4-6)Cca>Aca	p.P2T	GNGT1_uc003umx.1_Non-coding_Transcript	NM_021955	NP_068774	P63211	GBG1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 (GNGT1), mRNA.	2					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAAAAAGATGCCAGTAATCAA	0.403000													20	66					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21329207	21329207	+	Splice_Site	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:21329207G>A	uc001bec.3	-	3	286	c.30_splice	c.e3+1	p.P10_splice	EIF4G3_uc010odj.2_Splice_Site_p.P10_splice|EIF4G3_uc009vpz.3_Splice_Site_p.P10_splice|EIF4G3_uc001bef.3_Splice_Site_p.P10_splice|EIF4G3_uc001bee.3_Splice_Site_p.P10_splice|EIF4G3_uc001beg.3_Splice_Site_p.P10_splice|EIF4G3_uc010odk.2_Splice_Site_p.P10_splice|EIF4G3_uc001beh.3_Splice_Site_p.P10_splice	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	10					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTACTTACCGGAGAACGGGT	0.448000													13	248					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40772432	40772432	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr9:40772432G>A	uc004abs.2	-	4	2995	c.2843C>T	c.(2842-2844)gCc>gTc	p.A948V	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.A948V	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAATTATGGGCAAATGGCTT	0.423000													4	172					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	C	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000													4	29					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673194	39673194	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:39673194G>A	uc002hwy.3	-	2	795	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KRT15_uc002hwz.3_Missense_Mutation_p.R104C|KRT15_uc002hxa.3_Missense_Mutation_p.R37C|KRT15_uc002hxb.1_Missense_Mutation_p.R37C	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	202	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACGCCCTGGCGCAGGGCCAGC	0.597000													4	111					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													6	21					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357401	40357401	+	Silent	SNP	C	C	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr19:40357401C>A	uc002omp.4	-	33	15920	c.15912G>T	c.(15910-15912)acG>acT	p.T5304T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5304	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGGAGTCAACGTCACCATCC	0.542000													4	82					0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627263	43627263	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr9:43627263C>T	uc011lrb.2	-	3	1453	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	475						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AAAGGGTTGGCGGTGGGACAG	0.527000													215	332					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812714	62812714	+	Silent	SNP	G	G	A	rs35637502		TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:62812714G>A	uc010ihh.3	+	12	2471	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	LPHN3_uc003hcq.4_Silent_p.T766T|LPHN3_uc003hct.3_Silent_p.T159T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGTTGGGAACGGAAGCTTTGT	0.403000													9	246					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56104979	56104979	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:56104979G>A	uc002rzi.3	-	6	1163	c.662C>T	c.(661-663)cCt>cTt	p.P221L	EFEMP1_uc002rzj.3_Missense_Mutation_p.P221L|EFEMP1_uc010ypc.2_Intron	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	221	EGF-like 3; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCAATATGGAGGGATGGTACA	0.408000													51	115					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23886556	23886556	+	Splice_Site	SNP	T	T	C			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:23886556T>C	uc003gqs.3	-	2	175	c.55_splice	c.e2-1	p.C19_splice	PPARGC1A_uc003gqt.3_Splice_Site|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_Splice_Site|PPARGC1A_uc003gqu.4_Intron	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	19					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGCAGCACACTGCAGGAGGCA	0.388000													12	32					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62863890	62863890	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:62863890T>C	uc004dvl.2	-	8	2178	c.1339A>G	c.(1339-1341)Atg>Gtg	p.M447V	ARHGEF9_uc011mos.1_Missense_Mutation_p.M426V|ARHGEF9_uc004dvk.1_Missense_Mutation_p.M265V|ARHGEF9_uc004dvm.1_Missense_Mutation_p.M426V|ARHGEF9_uc004dvj.2_Missense_Mutation_p.M345V|ARHGEF9_uc011mot.2_Missense_Mutation_p.M394V|ARHGEF9_uc004dvn.3_Missense_Mutation_p.M454V	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	447					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCACAGTCATTGCAGCCTGC	0.358000													4	22					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22246172	22246172	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr13:22246172G>A	uc001uog.2	+	0	958	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	41					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGGTCAGTCCGAAGCAGGGGG	0.572000													6	107					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873598	36873598	+	Silent	SNP	C	C	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr3:36873598C>A	uc003cgj.3	-	20	7592	c.7344G>T	c.(7342-7344)ctG>ctT	p.L2448L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2448					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTTGCTAAACAGGAACTCCC	0.507000													7	119					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109867585	109867585	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:109867585T>G	uc001dxm.2	-	13	1819	c.1770A>C	c.(1768-1770)gaA>gaC	p.E590D	SORT1_uc010ovi.2_Missense_Mutation_p.E453D	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	590					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCAGGAAAGATTCTGTGAAGC	0.463000													22	23					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6748612	6748612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:6748612C>T	uc003jdx.1	+	7	874	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	PAPD7_uc011cmn.2_Nonsense_Mutation_p.Q249*|PAPD7_uc010itl.1_Nonsense_Mutation_p.Q69*	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	249					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGCGCCATGCAGGTGAAGCA	0.542000													5	323					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73646386	73646386	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:73646386A>G	uc002sje.1	+	2	697	c.586A>G	c.(586-588)Acg>Gcg	p.T196A	ALMS1_uc002sjf.1_Missense_Mutation_p.T154A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	196					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCATATTGACGCAATCAGA	0.428000													4	80					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:114270018G>A	uc003vhb.3	+	4	929	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q210Q|FOXP2_uc003vha.3_Silent_p.Q93Q|FOXP2_uc011kmv.2_Silent_p.Q185Q|FOXP2_uc011kmu.2_Silent_p.Q202Q|FOXP2_uc010ljz.2_Silent_p.Q93Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q185Q|FOXP2_uc003vgx.2_Silent_p.Q185Q|FOXP2_uc003vhc.3_Silent_p.Q210Q|FOXP2_uc003vhd.3_Silent_p.Q185Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000													4	79					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56657675	56657675	+	Splice_Site	SNP	G	G	C			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr15:56657675G>C	uc002adp.3	+	1	32	c.27_splice	c.e1+1	p.T9_splice	TEX9_uc010ugl.2_Splice_Site|TEX9_uc002adq.1_5'UTR	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	Homo sapiens testis expressed 9 (TEX9), mRNA.	9										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGTGTCTCACGGTCAGTTCAA	0.587000													11	43					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1157545	1157545	+	Silent	SNP	C	C	T			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr11:1157545C>T	uc021qbr.1	+	6	773	c.726C>T	c.(724-726)gaC>gaT	p.D242D				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	238	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGAAGATGGACGACCCCACGG	0.627000													5	25					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36561718	36561718	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:36561718A>G	uc022abu.1	-	19	1927	c.1526T>C	c.(1525-1527)aTa>aCa	p.I509T	AOAH_uc003tfh.4_Missense_Mutation_p.I509T|AOAH_uc011kba.2_Missense_Mutation_p.I477T	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	509					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCACTCCTGTATGACTGCAGG	0.582000													5	52					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000													3	30					0	0	1	0	0
TMEM171	134285	broad.mit.edu	37	5	72419573	72419573	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:72419573C>G	uc003kcm.2	+	1	577	c.373C>G	c.(373-375)Ctc>Gtc	p.L125V	TMEM171_uc003kcn.3_Missense_Mutation_p.L125V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	125						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AAGCGGCATGCTCATCAGCGT	0.587000													6	122					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207677	116207677	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr10:116207677G>A	uc021pyx.1	-	14	1796	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	ABLIM1_uc021pyw.1_Missense_Mutation_p.T566M|ABLIM1_uc021pyy.1_Missense_Mutation_p.T534M|ABLIM1_uc021pyz.1_Missense_Mutation_p.T500M|ABLIM1_uc021pza.1_Missense_Mutation_p.T506M|ABLIM1_uc021pze.1_Intron|ABLIM1_uc021pzf.1_Missense_Mutation_p.T530M|ABLIM1_uc021pyv.1_Missense_Mutation_p.T236M|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Missense_Mutation_p.T182M|ABLIM1_uc021pzd.1_Missense_Mutation_p.T379M|ABLIM1_uc021pyu.1_Missense_Mutation_p.T243M	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	566					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAGTGGTCCGTCTCAATCTT	0.542000													27	60					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238737984	238737984	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:238737984T>A	uc002vxi.4	+	12	2860	c.2728T>A	c.(2728-2730)Tca>Aca	p.S910T		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	909							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAATATACATCACCACTTTC	0.348000													7	53					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153144159	153144159	+	Silent	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:153144159G>A	uc011dcy.2	+	11	2046	c.2019G>A	c.(2017-2019)acG>acA	p.T673T	GRIA1_uc003lva.4_Silent_p.T663T|GRIA1_uc003luy.4_Silent_p.T663T|GRIA1_uc003luz.4_Silent_p.T568T|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.T583T|GRIA1_uc011dcx.2_Silent_p.T594T|GRIA1_uc011dcz.2_Silent_p.T673T	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	663					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTACGGGACGCTGGAAGCAG	0.502000													18	41					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904139	21904139	+	RNA	SNP	T	T	G			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:21904139T>G	uc002gza.2	+	0		c.78T>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ccgagcaggatgaggaaacca	0.692000													8	120					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920765	58920765	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr11:58920765G>A	uc010rkp.2	+	4	1851	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	FAM111A_uc010rkq.2_Missense_Mutation_p.G542S|FAM111A_uc010rkr.2_Missense_Mutation_p.G542S|FAM111A_uc001nno.3_Missense_Mutation_p.G542S|FAM111A_uc001nnp.3_Missense_Mutation_p.G542S|FAM111A_uc001nnq.3_Missense_Mutation_p.G542S	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	542					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TGGGGCTTCCGGCTCCCCTGT	0.413000													4	148					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													8	110	---	---	---	---					
FAM53A	152877	broad.mit.edu	37	4	1657001	1657001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:1657001delC	uc021xkk.1	-	3	784	c.586delG	c.(586-588)gacfs	p.D196fs	FAM53A_uc010ibw.3_Frame_Shift_Del_p.D196fs|FAM53A_uc021xkl.1_Frame_Shift_Del_p.D196fs	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	196						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCGCTGCTGTCCACGAAGCCG	0.746													2	4	---	---	---	---					
MSH5	4439	broad.mit.edu	37	6	31709057	31709058	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr6:31709057_31709058insAG	uc003nwu.2	+	2	393_394	c.265_266insAG	c.(265-267)cagfs	p.Q89fs	MSH5_uc003nwx.2_Frame_Shift_Ins_p.Q89fs|MSH5_uc003nwv.2_Frame_Shift_Ins_p.Q89fs|MSH5_uc003nww.2_Frame_Shift_Ins_p.Q89fs	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	89					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CAAGCTTCTCCAGAGAGGTGGG	0.500								Direct reversal of damage;Mismatch excision repair (MMR)					28	125	---	---	---	---					
CHST15	51363	broad.mit.edu	37	10	125780846	125780852	+	Frame_Shift_Del	DEL	GCTGCAG	GCTGCAG	-			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr10:125780846_125780852delGCTGCAG	uc001lhn.3	-	5	2001_2007	c.1267_1273delCTGCAGC	c.(1267-1275)ctgcagctgfs	p.L423fs	CHST15_uc001lhm.3_Frame_Shift_Del_p.L423fs|CHST15_uc010que.2_Frame_Shift_Del_p.L423fs|CHST15_uc001lho.3_Frame_Shift_Del_p.L423fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	423					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTCAAACAGCTGCAGTGCTTCTGTC	0.473													12	24	---	---	---	---					
BAIAP2L2	80115	broad.mit.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs113792005	by1000genomes	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	uc003auw.3	-	11	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	BAIAP2L2_uc003auv.3_Non-coding_Transcript	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	441					filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674													4	6	---	---	---	---					
