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
SLC16A6	9120	broad.mit.edu	37	17	66267712	66267712	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:66267712C>T	uc002jha.2	-	5	902	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.G197R	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	197						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGCAGTGCTCCGAAGATGACA	0.473000													4	64					0	0	1	0	0
CLEC11A	6320	broad.mit.edu	37	19	51227212	51227212	+	Silent	SNP	T	T	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51227212T>G	uc002psy.3	+	1	376	c.198T>G	c.(196-198)ccT>ccG	p.P66P		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	Homo sapiens C-type lectin domain family 11, member A (CLEC11A), mRNA.	66					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGAGAATCCTGCCGGAACTG	0.652000											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:140481402C>G	uc003vwc.4	-	10	1467	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(49)|p.G469V(30)|p.G469E(12)|p.G469S(12)|p.G469R(7)|p.F468S(1)|p.F468C(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	97					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76247049	76247049	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:76247049T>G	uc001oxl.3	+	14	2448	c.2305T>G	c.(2305-2307)Tca>Gca	p.S769A	C11orf30_uc001oxm.3_Missense_Mutation_p.S685A|C11orf30_uc010rsb.2_Missense_Mutation_p.S784A|C11orf30_uc010rsc.2_Missense_Mutation_p.S784A|C11orf30_uc001oxn.3_Missense_Mutation_p.S770A|C11orf30_uc010rsd.2_Intron|C11orf30_uc001oxo.1_Missense_Mutation_p.S137A|C11orf30_uc010rse.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	769					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCCAGTGAATCACAATCAGC	0.403000													7	12					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827928	40827928	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr20:40827928G>A	uc002xkg.3	-	15	2627	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	PTPRT_uc010ggj.3_Missense_Mutation_p.R834C|PTPRT_uc010ggi.3_Missense_Mutation_p.R18C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	815					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCATCATTGCGGCTGGCGCTG	0.582000													7	424					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:47198145C>T	uc001ndt.3	-	1	385	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_uc010rha.2_5'Flank|ARFGAP2_uc010rhb.2_Missense_Mutation_p.S38N|ARFGAP2_uc001ndu.3_Missense_Mutation_p.S38N|ARFGAP2_uc010rhc.2_5'UTR|ARFGAP2_uc010rhd.2_Missense_Mutation_p.S38N	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	38	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	p.S38N(2)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632000													10	81					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515372	51515372	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:51515372G>A	uc010ric.2	+	0	91	c.91G>A	c.(91-93)Gtc>Atc	p.V31I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTGTTTTTTGTCATCTATAT	0.433000													24	122					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9580293	9580293	+	RNA	SNP	A	A	G	rs139954536	by1000genomes	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:9580293A>G	uc021qut.1	-	4		c.329T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.M473T(1)									CTTCAGCTCCATCCCTGAGAA	0.502000													4	46					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389894	48389894	+	Silent	SNP	C	C	G	rs145181839	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:48389894C>G	uc001jez.3	-	0	1098	c.984G>C	c.(982-984)ggG>ggC	p.G328G		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	328	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGGACTACCCCTGGAAGGG	0.672000													8	31					0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15058964	15058964	+	Missense_Mutation	SNP	C	C	T	rs113187434	by1000genomes	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:15058964C>T	uc010qby.1	-	6	536	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	DCLRE1C_uc021pni.1_Intron			Q8N6N7	ACBD7_HUMAN	Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.	0	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						AGCCGCTTTGCAGTTCAGCCA	0.393000													4	193					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211341083	211341083	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr2:211341083T>C	uc010zjh.2	-	1	113	c.38A>G	c.(37-39)tAt>tGt	p.Y13C	CPS1_uc010fur.3_5'Flank|LANCL1_uc002ved.3_Missense_Mutation_p.Y13C|LANCL1_uc010fuq.3_Missense_Mutation_p.Y13C	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	13						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGATTTGTTATAATCAGCATA	0.542000													15	35					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124273783	124273783	+	Missense_Mutation	SNP	G	G	A	rs149822364	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:124273783G>A	uc001lgj.2	+	8	1479	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	451	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGCGACGTCATTAAAAG	0.483000													51	140					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777442	123777442	+	Missense_Mutation	SNP	T	T	C	rs79561639	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777442T>C	uc010saa.2	+	0	304	c.304T>C	c.(304-306)Ttt>Ctt	p.F102L		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GATTCAGCTGTTTTTTTTCTG	0.438000													5	207					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960060	215960060	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:215960060C>A	uc001hku.1	-	51	10726	c.10339G>T	c.(10339-10341)Gcc>Tcc	p.A3447S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3447	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCTTCGGCAGATGAACAC	0.453000										HNSCC(13;0.011)			5	76					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30104886	30104886	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:30104886G>A	uc003npk.2	+	1	459	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TRIM40_uc003npm.2_Missense_Mutation_p.V25M	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	25						intracellular	zinc ion binding			ovary(1)	1						GAAGGAGGCCGTGAGCACCAA	0.607000													19	49					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237113	29237113	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:29237113T>C	uc001wqe.3	+	0	827	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	210					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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	p.E209K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CATCTACGAGTTCATCATGAA	0.572000													14	47					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51451965	51451965	+	Silent	SNP	A	A	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51451965A>G	uc002pue.3	-	5	875	c.657T>C	c.(655-657)gaT>gaC	p.D219D	KLK5_uc002puf.3_Silent_p.D219D|KLK5_uc002pug.3_Silent_p.D219D	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	219	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TCGGGTAAGCATCCTCGCACC	0.493000													8	54					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768604	121768604	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:121768604C>T	uc003pyr.3	+	1	861	c.611C>T	c.(610-612)aCg>aTg	p.T204M	GJA1_uc011ebo.1_Missense_Mutation_p.T105M|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Missense_Mutation_p.T204M	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	204			T -> M (in dbSNP:rs2228965).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCGCCCCACGGAGAAAACC	0.473000													11	139					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48139193	48139193	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:48139193C>T	uc002efc.1	-	18	2876	c.2530G>A	c.(2530-2532)Gca>Aca	p.A844T	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	844	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGATGTCTGCCAGCACCGCG	0.532000													12	15					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138426080	138426080	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr3:138426080T>C	uc011bmq.2	-	8	1451	c.1451A>G	c.(1450-1452)tAt>tGt	p.Y484C	PIK3CB_uc011bmn.2_Missense_Mutation_p.Y13C|PIK3CB_uc011bmo.2_Intron|PIK3CB_uc011bmp.2_Missense_Mutation_p.Y88C	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	484					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTTTCAGTATATGGATTTGT	0.299000													7	25					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4130909	4130909	+	Silent	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:4130909C>T	uc001lyw.4	+	4	742	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RRM1_uc009yeh.1_Silent_p.F44F|RRM1_uc009yei.3_Silent_p.F101F|RRM1_uc010qyc.2_Silent_p.F44F	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	141					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACCGAGATTTCTCTTACAATT	0.294000													8	26					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913365	136913365	+	Silent	SNP	G	G	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:136913365G>T	uc003qhc.3	-	22	3532	c.3171C>A	c.(3169-3171)atC>atA	p.I1057I	MAP3K5_uc011edj.2_Silent_p.I304I|MAP3K5_uc011edk.1_Silent_p.I903I	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1057					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCCGTCAGGATCCTGTGAA	0.438000													46	105					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53990499	53990499	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:53990499C>T	uc001cvr.1	-	4	1586	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	340					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACGTGCTTGCGGAGGGAGCT	0.637000													4	172					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													7	19					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22796887	22796887	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:22796887G>A	uc001rft.3	+	1	636	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ETNK1_uc009ziz.3_Missense_Mutation_p.G205E|ETNK1_uc001rfs.3_Missense_Mutation_p.G205E	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	205					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCAATAATGGACTATGCTAT	0.403000													26	106					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777463	123777463	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777463A>C	uc010saa.2	+	0	325	c.325A>C	c.(325-327)Att>Ctt	p.I109L		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTTTGTGTTATTTCTGAATG	0.468000													4	180					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190738	17190738	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:17190738G>A	uc001mmq.4	-	0	616	c.551C>T	c.(550-552)cCt>cTt	p.P184L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.P184L|PIK3C2A_uc009ygv.1_Missense_Mutation_p.P184L	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	184					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAATATATAGGTTCTGTAGA	0.398000													25	60					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70477514	70477514	+	Silent	SNP	A	A	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:70477514A>G	uc001xlt.2	+	7	990	c.708A>G	c.(706-708)gaA>gaG	p.E236E	SMOC1_uc001xls.2_Silent_p.E236E	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	236	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTGCCCTGGAAGAGGCCCAGC	0.537000													39	111					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319513	3319513	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr4:3319513C>T	uc003ggw.3	+	1	2520	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	RGS12_uc003ggu.2_Missense_Mutation_p.P539L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.P539L|RGS12_uc003ggx.1_Missense_Mutation_p.P539L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	539						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTGGCTCCCGGTCCACGTG	0.637000													10	41					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176001	140176001	+	Silent	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr5:140176001G>A	uc003lhd.2	+	0	1558	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.A484A|PCDHAC2_uc011czy.2_Silent_p.A484A	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACGCGCAGGAGAACG	0.657000													20	96					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268698	22268698	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:22268698G>A	uc002dki.3	+	7	1378	c.893G>A	c.(892-894)gGc>gAc	p.G298D	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	298	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTTGGAGACGGCAACCTAGGT	0.557000													4	100					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115638	61115638	+	Silent	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:61115638C>T	uc001xfb.4	-	0	518	c.270G>A	c.(268-270)gcG>gcA	p.A90A		NM_005982	NP_005973	Q15475	SIX1_HUMAN	Homo sapiens SIX homeobox 1 (SIX1), mRNA.	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A90A(2)|p.A90V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCACGTAATGCGCCTTCAGCC	0.627000													6	196					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48685232	48685232	+	Silent	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:48685232G>A	uc002irk.1	+	24	4929	c.4557G>A	c.(4555-4557)tcG>tcA	p.S1519S	CACNA1G_uc002irj.1_Silent_p.S1496S|CACNA1G_uc002irl.1_Silent_p.S1496S|CACNA1G_uc002irm.1_Silent_p.S1496S|CACNA1G_uc002irn.1_Silent_p.S1496S|CACNA1G_uc002iro.1_Silent_p.S1496S|CACNA1G_uc002irp.1_Silent_p.S1519S|CACNA1G_uc002irq.1_Silent_p.S1496S|CACNA1G_uc002irr.1_Silent_p.S1519S|CACNA1G_uc002irs.1_Silent_p.S1519S|CACNA1G_uc002irt.1_Silent_p.S1519S|CACNA1G_uc002iru.1_Silent_p.S1496S|CACNA1G_uc002irv.1_Silent_p.S1519S|CACNA1G_uc002irw.1_Silent_p.S1496S|CACNA1G_uc002irx.1_Silent_p.S1432S|CACNA1G_uc002iry.1_Silent_p.S1432S|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Silent_p.S1432S|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Silent_p.S1432S|CACNA1G_uc002isb.1_Silent_p.S1432S|CACNA1G_uc002isc.1_Silent_p.S1432S|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Silent_p.S1432S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1519					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTCATCTCGTTCCTGCTCA	0.577000													12	81					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530906	50530906	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:50530906G>A	uc021pqb.1	+	0	316	c.316G>A	c.(316-318)Gtt>Att	p.V106I	C10orf71_uc021pqa.1_Missense_Mutation_p.V105I|C10orf71_uc021pqc.1_Missense_Mutation_p.V106I	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	106										endometrium(1)	1						ACCCAAGTACGTTCAGGGAGA	0.592000													8	119					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810394	123810394	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123810394G>A	uc001pzk.1	+	0	71	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGAGCTTCGGTTTGTTTTC	0.463000													13	67					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr4:71346978T>C	uc011cat.2	+	3	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	173	Thr-rich.					extracellular region	protein binding	p.S173P(6)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													8	172					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30961798	30961799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:30961798_30961799insC	uc003tbv.2	+	1	612_613	c.502_503insC	c.(502-504)gccfs	p.A168fs	FAM188B_uc011kac.1_Frame_Shift_Ins_p.A228fs|FAM188B_uc010kwf.1_Frame_Shift_Ins_p.A85fs|FAM188B_uc010kwh.1_Frame_Shift_Ins_p.A117fs|FAM188B_uc022abh.1_Frame_Shift_Ins_p.A53fs	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGGCTCAGCCCCCCTTGCC	0.683													26	48	---	---	---	---					
WDR11	55717	broad.mit.edu	37	10	122646216	122646219	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:122646216_122646219delAGAA	uc021pzt.1	+	15	2235_2238	c.1989_1992delAGAA	c.(1987-1992)gcagaafs	p.A663fs	WDR11_uc010qte.2_Frame_Shift_Del_p.A265fs|WDR11_uc001lfd.1_Frame_Shift_Del_p.A181fs	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	663						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGCAGGAGGCAGAAAGTAAATCTG	0.382													7	34	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	8	1499_1501	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													7	261	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:29450110delA	uc001rit.3	+	3	790	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_uc001ris.4_Frame_Shift_Del_p.P174fs|FAR2_uc009zjm.3_Frame_Shift_Del_p.P77fs|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													7	165	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:45247389delT	uc002ile.4	-	3	398	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_uc002ild.4_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	91					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.I91fs*54(2)		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						CCAGATAAGATTTGTTCCCCT	0.323													10	116	---	---	---	---					
