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
CAMTA1	23261	broad.mit.edu	37	1	7725097	7725097	+	Silent	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:7725097C>T	uc001aoi.2	+	9	2697	c.2490C>T	c.(2488-2490)AGC>AGT	p.S830S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCAGGGTAGCCTGCAGCTGA	0.716000												
RSPO1	284654	broad.mit.edu	37	1	38082187	38082187	+	Silent	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:38082187G>A	uc001cbl.1	-	5	1043	c.255C>T	c.(253-255)GAC>GAT	p.D85D	RSPO1_uc001cbm.1_Silent_p.D85D|RSPO1_uc009vvf.1_Silent_p.D58D|RSPO1_uc009vvg.1_Silent_p.D85D	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	85	FU 1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTTGCGGGCGTCGAAGTATC	0.612000												
SLC2A1	6513	broad.mit.edu	37	1	43396861	43396861	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:43396861T>C	uc001cik.2	-	3	656	c.131A>G	c.(130-132)TAC>TGC	p.Y44C		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	44	Extracellular (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGTCTGGTTGTAGAACTCCTC	0.607000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRC7	57554	broad.mit.edu	37	1	70504365	70504365	+	Missense_Mutation	SNP	G	G	A	rs141932871		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:70504365G>A	uc001dep.2	+	19	2774	c.2744G>A	c.(2743-2745)CGC>CAC	p.R915H	LRRC7_uc009wbg.2_Missense_Mutation_p.R199H|LRRC7_uc001deq.2_Missense_Mutation_p.R156H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	915						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						ATCCACTGCCGCCCGGAATCT	0.403000												
COL11A1	1301	broad.mit.edu	37	1	103484413	103484413	+	Silent	SNP	A	A	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:103484413A>T	uc001dul.2	-	10	1629	c.1311T>A	c.(1309-1311)GGT>GGA	p.G437G	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.G449G|COL11A1_uc001dun.2_Silent_p.G398G|COL11A1_uc009weh.2_Silent_p.G321G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	437	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGACAAGCATACCCTATAACA	0.328000												
IGSF9	57549	broad.mit.edu	37	1	159912835	159912835	+	Silent	SNP	G	G	A	rs143816509		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:159912835G>A	uc001fur.2	-	3	363	c.165C>T	c.(163-165)ATC>ATT	p.I55I	IGSF9_uc001fuq.2_Silent_p.I55I	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	55	Ig-like 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGCCACTCGATGACATGCA	0.517000												
CACNA1E	777	broad.mit.edu	37	1	181767666	181767666	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:181767666C>A	uc001gow.2	+	47	6674	c.6509C>A	c.(6508-6510)TCT>TAT	p.S2170Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.S2058Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.S1439Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2213	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTTCCAACTCTCCGCACCCC	0.622000												
HMCN1	83872	broad.mit.edu	37	1	185946997	185946997	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:185946997A>G	uc001grq.1	+	16	2679	c.2450A>G	c.(2449-2451)CAG>CGG	p.Q817R	HMCN1_uc001grr.1_Missense_Mutation_p.Q158R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	817	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTTATGTTCAGGGTTATCCA	0.393000												
KCNH1	3756	broad.mit.edu	37	1	211093223	211093223	+	Silent	SNP	G	G	A	rs138866428		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:211093223G>A	uc001hib.2	-	7	1391	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	KCNH1_uc001hic.2_Silent_p.D380D	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	407	Extracellular (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGTGTCCTCGTCAAAGATCT	0.547000												
FRMD4A	55691	broad.mit.edu	37	10	13698676	13698676	+	Silent	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr10:13698676G>A	uc001ims.2	-	22	3265	c.2913C>T	c.(2911-2913)AGC>AGT	p.S971S	FRMD4A_uc009xjf.1_Silent_p.S971S	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	971	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TGGTGACCCTGCTGTGCGCCA	0.672000												
OR9Q2	219957	broad.mit.edu	37	11	57958374	57958374	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:57958374G>A	uc010rka.1	+	1	412	c.412G>A	c.(412-414)GAG>AAG	p.E138K		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				CATCATAACCGAGAAGGCCCG	0.547000												
TMEM138	51524	broad.mit.edu	37	11	61133663	61133663	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:61133663G>A	uc001nrl.1	+	3	451	c.275G>A	c.(274-276)AGC>AAC	p.S92N	TMEM138_uc010rli.1_Missense_Mutation_p.S92N|TMEM138_uc001nrm.2_Missense_Mutation_p.S92N	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	92	Helical; (Potential).					integral to membrane					0						TTTGCCCTCAGCATCTCCCTT	0.363000												
MAP3K11	4296	broad.mit.edu	37	11	65375465	65375465	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:65375465C>T	uc001oew.2	-	3	1490	c.997G>A	c.(997-999)GGC>AGC	p.G333S	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.G76S|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	333	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						ACAGCTACGCCATAGGCCACA	0.607000												
MMP10	4319	broad.mit.edu	37	11	102643648	102643648	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:102643648T>C	uc001phg.1	-	8	1178	c.1156A>G	c.(1156-1158)AAA>GAA	p.K386E		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	386					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GCATCAATTTTCCTTATGGTT	0.413000												
KIAA1826	84437	broad.mit.edu	37	11	105880559	105880559	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:105880559A>C	uc001piy.2	-	3	914	c.741T>G	c.(739-741)CAT>CAG	p.H247Q	KIAA1826_uc001piz.2_Missense_Mutation_p.H247Q	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	247	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		GAAGCCGCTCATGTTCCATGT	0.468000												
KRT2	3849	broad.mit.edu	37	12	53045826	53045826	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr12:53045826C>T	uc001sat.2	-	1	134	c.101G>A	c.(100-102)CGG>CAG	p.R34Q		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	34	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGTTGATCTCCGGCTTCCACC	0.517000												
ANKS1B	56899	broad.mit.edu	37	12	100200338	100200338	+	Silent	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr12:100200338G>A	uc001tge.1	-	4	930	c.513C>T	c.(511-513)TAC>TAT	p.Y171Y	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.Y171Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	171	ANK 5.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TAAGCCGTCCGTAGAGTGCCG	0.488000												
FZD10	11211	broad.mit.edu	37	12	130647618	130647618	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr12:130647618A>G	uc001uii.2	+	1	587	c.131A>G	c.(130-132)GAC>GGC	p.D44G	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	44	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ATGTGCAAGGACATCGGCTAC	0.632000												
CCNA1	8900	broad.mit.edu	37	13	37006834	37006834	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr13:37006834G>A	uc001uvr.3	+	1	426	c.76G>A	c.(76-78)GAA>AAA	p.E26K	CCNA1_uc010teo.1_Intron|CCNA1_uc010abq.2_Intron|CCNA1_uc010abp.2_Intron|CCNA1_uc001uvs.3_Missense_Mutation_p.E26K|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	26					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTCAGCTGGGAAGGACCGGG	0.552000												
OXGR1	27199	broad.mit.edu	37	13	97639925	97639925	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr13:97639925G>A	uc001vmx.1	-	4	333	c.89C>T	c.(88-90)CCA>CTA	p.P30L	OXGR1_uc010afr.1_Missense_Mutation_p.P30L	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	30	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CATCTTGAGTGGGATGTTTTC	0.408000												
CCDC102A	92922	broad.mit.edu	37	16	57552022	57552022	+	Silent	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr16:57552022G>A	uc002elw.2	-	6	1419	c.1206C>T	c.(1204-1206)TGC>TGT	p.C402C		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	402										ovary(1)	1						CCCTCAGGTCGCAGTCCAGTG	0.687000												
COX4NB	10328	broad.mit.edu	37	16	85813362	85813362	+	Silent	SNP	A	A	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr16:85813362A>G	uc002fjd.2	-	5	832	c.585T>C	c.(583-585)AAT>AAC	p.N195N	COX4NB_uc010vol.1_3'UTR	NM_006067	NP_006058	O43402	CX4NB_HUMAN	COX4 neighbor isoform 1	195						mitochondrion|nucleus					0						TTGTCCAGTCATTCCGAATGT	0.547000												
MAP2K4	6416	broad.mit.edu	37	17	11984671	11984671	+	Splice_Site	SNP	A	A	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:11984671A>G	uc002gnj.2	+	3	288	c.219_splice	c.e3-2	p.I73_splice	MAP2K4_uc002gnk.2_Splice_Site_p.I84_splice|MAP2K4_uc010vvi.1_Splice_Site|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATATTTTAACAGAGAGAGACT	0.353000			D|Mis|N		pancreatic|breast|colorectal							
KRT28	162605	broad.mit.edu	37	17	38953169	38953169	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:38953169G>A	uc002hvh.1	-	5	1043	c.977C>T	c.(976-978)ACG>ATG	p.T326M		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	326	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GTCACCTACCGTGGCCATCAG	0.572000												
LPO	4025	broad.mit.edu	37	17	56326514	56326514	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:56326514C>G	uc002ivt.2	+	5	735	c.419C>G	c.(418-420)ACC>AGC	p.T140S	LPO_uc010dco.2_Missense_Mutation_p.T140S|LPO_uc010wnr.1_Missense_Mutation_p.T57S|LPO_uc010wns.1_Missense_Mutation_p.T81S|LPO_uc010dcp.2_Missense_Mutation_p.T57S|LPO_uc010dcq.2_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	140					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						CCTTACCGCACCATTACGGGA	0.637000												
C17orf71	55181	broad.mit.edu	37	17	57290373	57290373	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:57290373C>A	uc002ixi.2	+	3	2231	c.2189C>A	c.(2188-2190)ACT>AAT	p.T730N		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	730					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GAAGTGAAAACTGAGAAGAGG	0.458000												
DLGAP1	9229	broad.mit.edu	37	18	3729181	3729181	+	Silent	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr18:3729181C>T	uc002kmf.2	-	4	1612	c.1545G>A	c.(1543-1545)TCG>TCA	p.S515S	DLGAP1_uc010wyz.1_Silent_p.S515S|DLGAP1_uc002kme.1_Silent_p.S213S|DLGAP1_uc010dkn.2_Silent_p.S213S|DLGAP1_uc010wyw.1_Silent_p.S221S|DLGAP1_uc010wyx.1_Silent_p.S227S|DLGAP1_uc010wyy.1_Silent_p.S227S|DLGAP1_uc002kmg.2_Silent_p.S213S|DLGAP1_uc002kmk.2_Silent_p.S515S	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	515					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				TGCGCGGCGGCGAGGACGACC	0.677000												
APC2	10297	broad.mit.edu	37	19	1466023	1466023	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:1466023G>A	uc002lsr.1	+	15	2931	c.2723G>A	c.(2722-2724)CGG>CAG	p.R908Q	APC2_uc002lss.1_Missense_Mutation_p.R490Q|APC2_uc002lst.1_Missense_Mutation_p.R908Q|APC2_uc002lsu.1_Missense_Mutation_p.R907Q|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	908					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAAGCCGGGCGCACCCG	0.741000												
CACNA1A	773	broad.mit.edu	37	19	13409734	13409734	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:13409734C>T	uc010dze.2	-	19	2952	c.2716G>A	c.(2716-2718)GCC>ACC	p.A906T	CACNA1A_uc010dzc.2_Missense_Mutation_p.A431T|CACNA1A_uc002mwy.3_Missense_Mutation_p.A905T|CACNA1A_uc010xne.1_Missense_Mutation_p.A434T	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	906	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCTCCCGGGCGTGGTGGTCC	0.776000												
YIF1B	90522	broad.mit.edu	37	19	38799964	38799964	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:38799964T>A	uc002ohz.2	-	3	351	c.302A>T	c.(301-303)GAC>GTC	p.D101V	YIF1B_uc002ohw.2_Missense_Mutation_p.D70V|YIF1B_uc002ohx.2_Missense_Mutation_p.D86V|YIF1B_uc010xtx.1_Missense_Mutation_p.D84V|YIF1B_uc010xty.1_Missense_Mutation_p.D70V|YIF1B_uc002oia.2_Missense_Mutation_p.D98V|YIF1B_uc002ohy.2_Missense_Mutation_p.D98V|YIF1B_uc002oib.2_Missense_Mutation_p.D98V	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	101	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GATGAAGCGGTCGATCTGGGG	0.587000												
KCNF1	3754	broad.mit.edu	37	2	11053671	11053671	+	Silent	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:11053671C>T	uc002rax.2	+	1	1609	c.1119C>T	c.(1117-1119)TAC>TAT	p.Y373Y		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	373	Selectivity filter (By similarity).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGTCGGCTACGGCGACATCT	0.602000												
QPCT	25797	broad.mit.edu	37	2	37586990	37586990	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:37586990C>T	uc002rqg.2	+	3	657	c.535C>T	c.(535-537)CTT>TTT	p.L179F	QPCT_uc002rqh.2_Missense_Mutation_p.L130F	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	179					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAAGAAACTCCTTTCCTTAAA	0.413000												
NEB	4703	broad.mit.edu	37	2	152404896	152404896	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:152404896C>T	uc010fnx.2	-	103	15171	c.14980G>A	c.(14980-14982)GCA>ACA	p.A4994T	NEB_uc002txr.2_Missense_Mutation_p.A1417T	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4994					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACCCATATGCCTTGGTGTGT	0.433000												
TTN	7273	broad.mit.edu	37	2	179622343	179622343	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:179622343C>A	uc010zfi.1	-	44	10690	c.10466G>T	c.(10465-10467)GGG>GTG	p.G3489V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133432	NP_597676	Q8WZ42	TITIN_HUMAN	titin isoform novex-1	3571							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGTACTGCCCAGCATGCTC	0.458000												
CPXM1	56265	broad.mit.edu	37	20	2774876	2774876	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:2774876A>C	uc002wgu.2	-	14	2229	c.2165T>G	c.(2164-2166)CTT>CGT	p.L722R	CPXM1_uc010gas.2_Missense_Mutation_p.L648R	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	722					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						GCGCCTGCGAAGGTCCGGGGG	0.617000												
NAA20	51126	broad.mit.edu	37	20	20013784	20013784	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:20013784T>C	uc002wrp.2	+	6	594	c.490T>C	c.(490-492)TCC>CCC	p.S164P	NAA20_uc002wrq.2_3'UTR|NAA20_uc002wrr.2_Missense_Mutation_p.S152P	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	164						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						TGAGAAGAAATCCATCATACC	0.363000												
NDRG3	57446	broad.mit.edu	37	20	35317165	35317165	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:35317165T>C	uc002xfw.2	-	4	198	c.116A>G	c.(115-117)CAT>CGT	p.H39R	NDRG3_uc002xfx.2_Missense_Mutation_p.H27R|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	39					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				GACCACACCATGAGTTGTTTC	0.378000												
WISP2	8839	broad.mit.edu	37	20	43355838	43355838	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:43355838C>T	uc002xmn.2	+	5	996	c.643C>T	c.(643-645)CGG>TGG	p.R215W	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.R215W|WISP2_uc002xmq.2_Silent_p.P132P	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	215	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CATGGCCACCCGGGTGTCCAA	0.677000												
SAMSN1	64092	broad.mit.edu	37	21	15893509	15893509	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr21:15893509G>A	uc002yju.1	-	2	173	c.91C>T	c.(91-93)CGG>TGG	p.R31W	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R99W	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	31					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATTATTCCGAAAACGATCG	0.299000												
SMARCB1	6598	broad.mit.edu	37	22	24167535	24167535	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:24167535T>G	uc002zyb.2	+	7	1126	c.919T>G	c.(919-921)TTT>GTT	p.F307V	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.F298V|SMARCB1_uc002zyd.2_Missense_Mutation_p.F316V	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	307	Interaction with PPP1R15A.|2.|2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGGCGGGGAGTTTGTCACCAC	0.562000			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
CACNA1I	8911	broad.mit.edu	37	22	40037114	40037114	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:40037114C>T	uc003ayc.2	+	6	983	c.983C>T	c.(982-984)ACG>ATG	p.T328M	CACNA1I_uc003ayd.2_Missense_Mutation_p.T328M|CACNA1I_uc003aye.2_Missense_Mutation_p.T243M|CACNA1I_uc003ayf.2_Missense_Mutation_p.T243M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	328	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGTGCCGCACGGGCAGCGCC	0.592000												
ZC3H7B	23264	broad.mit.edu	37	22	41739432	41739432	+	Silent	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:41739432C>T	uc003azw.2	+	13	1527	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	453					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CCCGGGCTGGCGACTACACCT	0.632000												
KLHDC7B	113730	broad.mit.edu	37	22	50987858	50987858	+	Silent	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:50987858C>T	uc003bmi.2	+	1	1397	c.1263C>T	c.(1261-1263)TAC>TAT	p.Y421Y		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	421	Kelch 3.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGAGTGCTACGACCCGCGAA	0.677000												
CELSR3	1951	broad.mit.edu	37	3	48668088	48668088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:48668088G>T	uc003cuf.1	-	46	11415	c.11415C>A	c.(11413-11415)TGC>TGA	p.C3805*	SLC26A6_uc003cug.2_Nonsense_Mutation_p.C379*|SLC26A6_uc003cuh.2_Nonsense_Mutation_p.C400*|SLC26A6_uc010hke.2_Nonsense_Mutation_p.C251*|SLC26A6_uc003cuk.2_Nonsense_Mutation_p.C293*|SLC26A6_uc003cui.2_Nonsense_Mutation_p.C400*|SLC26A6_uc003cuj.2_Nonsense_Mutation_p.C400*|SLC26A6_uc011bbp.1_Nonsense_Mutation_p.C364*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGACATAGAGCAACTCACGG	0.527000												
MINA	84864	broad.mit.edu	37	3	97686239	97686239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:97686239G>A	uc003drz.1	-	2	705	c.199C>T	c.(199-201)CAG>TAG	p.Q67*	MINA_uc003dsa.1_Nonsense_Mutation_p.Q67*|MINA_uc003dsb.1_Nonsense_Mutation_p.Q67*|MINA_uc003dsc.1_Nonsense_Mutation_p.Q67*|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	67					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						TCATCTCTCTGAATGAGAAGG	0.468000												
MYH15	22989	broad.mit.edu	37	3	108129642	108129642	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:108129642C>T	uc003dxa.1	-	32	4400	c.4343G>A	c.(4342-4344)CGC>CAC	p.R1448H		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1448	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TGCTGCAGAGCGGACCTTCCC	0.652000												
EPHA5	2044	broad.mit.edu	37	4	66467874	66467874	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:66467874A>C	uc003hcy.2	-	3	588	c.395T>G	c.(394-396)TTT>TGT	p.F132C	EPHA5_uc003hcx.2_Missense_Mutation_p.F63C|EPHA5_uc003hcz.2_Missense_Mutation_p.F132C|EPHA5_uc011cah.1_Missense_Mutation_p.F132C|EPHA5_uc011cai.1_Missense_Mutation_p.F132C|EPHA5_uc003hda.2_Missense_Mutation_p.F132C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	132	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCGCAGGGTAAATTTGAGTTC	0.428000										TSP Lung(17;0.13)		
UNC5C	8633	broad.mit.edu	37	4	96127865	96127865	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:96127865C>T	uc003htp.1	-	11	1970	c.1816G>A	c.(1816-1818)GTC>ATC	p.V606I	UNC5C_uc010ilc.1_Missense_Mutation_p.V625I	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	606	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATAGTGAGGACGACTGGGCGG	0.592000												
PRMT10	90826	broad.mit.edu	37	4	148575375	148575375	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:148575375T>C	uc003ilc.2	-	9	1815	c.1673A>G	c.(1672-1674)GAT>GGT	p.D558G	PRMT10_uc003ilb.2_Missense_Mutation_p.D202G|PRMT10_uc003ild.2_Missense_Mutation_p.D445G	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	558						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						ACAGTGAGTATCCATGGTCTG	0.413000												
WDR17	116966	broad.mit.edu	37	4	177095813	177095813	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:177095813A>C	uc003iuj.2	+	28	3666	c.3510A>C	c.(3508-3510)TTA>TTC	p.L1170F	WDR17_uc003iuk.2_Missense_Mutation_p.L1146F|WDR17_uc003ium.3_Missense_Mutation_p.L1131F|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.L381F	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1170										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGGTGCATTACTGGCTATCA	0.333000												
IRF2	3660	broad.mit.edu	37	4	185339369	185339369	+	Splice_Site	SNP	T	T	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:185339369T>A	uc003iwf.3	-	5	565	c.365_splice	c.e5-1	p.G122_splice		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTCTTTCCTGTGGCAACAA	0.373000												
CDH12	1010	broad.mit.edu	37	5	21854857	21854857	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:21854857G>A	uc010iuc.2	-	4	1027	c.569C>T	c.(568-570)CCG>CTG	p.P190L	CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.P190L	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	190	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCCATAGGTCGGGTCATCTGC	0.403000										HNSCC(59;0.17)		
PCDH1	5097	broad.mit.edu	37	5	141243873	141243873	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:141243873G>C	uc003llq.2	-	3	2140	c.2023C>G	c.(2023-2025)CGA>GGA	p.R675G	PCDH1_uc003llp.2_Missense_Mutation_p.R675G|PCDH1_uc011dbf.1_Missense_Mutation_p.R653G	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	675	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGTTGCTCTCGATCAAAGCTC	0.557000												
PDE6A	5145	broad.mit.edu	37	5	149276316	149276316	+	Silent	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:149276316C>T	uc003lrg.3	-	11	1551	c.1431G>A	c.(1429-1431)AAG>AAA	p.K477K		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	477					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCATGGCTCCTTCCCATACA	0.522000												
TUBB2B	347733	broad.mit.edu	37	6	3226033	3226033	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:3226033G>A	uc003mvg.2	-	4	481	c.290C>T	c.(289-291)GCC>GTC	p.A97V	uc003mvi.1_5'Flank|TUBB2B_uc010jnj.2_Missense_Mutation_p.A60V|TUBB2B_uc010jnk.2_Missense_Mutation_p.A25V|TUBB2B_uc003mvh.2_Missense_Mutation_p.A70V|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	97					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTTATTCCCGGCTCCACTCTG	0.522000												
DDR1	780	broad.mit.edu	37	6	30856549	30856549	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:30856549G>T	uc003nrr.2	+	3	302	c.43G>T	c.(43-45)GTG>TTG	p.V15L	DDR1_uc010jse.2_Missense_Mutation_p.V15L|DDR1_uc003nrq.2_Missense_Mutation_p.V15L|DDR1_uc003nrs.2_Missense_Mutation_p.V15L|DDR1_uc003nrt.2_Missense_Mutation_p.V15L|DDR1_uc011dms.1_Missense_Mutation_p.V33L|DDR1_uc011dmt.1_Missense_Mutation_p.V41L|DDR1_uc003nru.2_Missense_Mutation_p.V15L|DDR1_uc011dmu.1_Missense_Mutation_p.V15L|DDR1_uc003nrv.2_Missense_Mutation_p.V15L|DDR1_uc003nrw.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	15					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GCTGCTCTTGGTGGCAAGTGG	0.567000												
ITPR3	3710	broad.mit.edu	37	6	33638163	33638163	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:33638163A>C	uc011drk.1	+	19	2470	c.2251A>C	c.(2251-2253)ATC>CTC	p.I751L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	751	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CATCGACGAGATCTCCCAGCA	0.607000												
ZNF318	24149	broad.mit.edu	37	6	43333179	43333179	+	Splice_Site	SNP	C	C	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:43333179C>G	uc003oux.2	-	2	478	c.400_splice	c.e2-1	p.R134_splice	ZNF318_uc003ouw.2_Splice_Site	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAGAGCGTCTCTACAAAAGTA	0.408000												
PSMB1	5689	broad.mit.edu	37	6	170862307	170862307	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:170862307A>T	uc011ehe.1	-	1	111	c.24T>A	c.(22-24)TAT>TAA	p.Y8*	PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank	NM_002793	NP_002784	P20618	PSB1_HUMAN	proteasome beta 1 subunit precursor	8					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CAGGAGCCGAATACATGGCTG	0.597000												
GIMAP5	55340	broad.mit.edu	37	7	150439921	150439921	+	Silent	SNP	A	A	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr7:150439921A>C	uc003whr.1	+	3	1046	c.694A>C	c.(694-696)AGA>CGA	p.R232R	GIMAP5_uc010lpu.2_Silent_p.R90R	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	232	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCTCCAAAGAACTGGAGC	0.592000												
OPRK1	4986	broad.mit.edu	37	8	54142312	54142312	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr8:54142312C>T	uc003xrh.1	-	3	1063	c.688G>A	c.(688-690)GTC>ATC	p.V230I	OPRK1_uc003xri.1_Missense_Mutation_p.V230I|OPRK1_uc010lyc.1_Missense_Mutation_p.V141I	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	230	Helical; Name=5; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAGATGAAGACGCAGATCTTC	0.527000												
TRHR	7201	broad.mit.edu	37	8	110100010	110100010	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr8:110100010C>T	uc003ymz.3	+	1	285	c.269C>T	c.(268-270)TCC>TTC	p.S90F		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	90	Extracellular (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATCTACGGTTCCTGGGTCTAT	0.498000												
RG9MTD3	158234	broad.mit.edu	37	9	37762114	37762114	+	Silent	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:37762114G>A	uc004aai.2	+	2	263	c.186G>A	c.(184-186)TCG>TCA	p.S62S	RG9MTD3_uc011lqo.1_Silent_p.S62S|RG9MTD3_uc011lqp.1_Silent_p.S62S|RG9MTD3_uc011lqq.1_Missense_Mutation_p.R33Q|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.G4S	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	62							methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		CATGGTGCTCGGTGAGTGCGT	0.527000												
GABBR2	9568	broad.mit.edu	37	9	101470875	101470875	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:101470875G>A	uc004ays.2	-	1	301	c.145C>T	c.(145-147)CCG>TCG	p.P49S		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	49	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTgggcggcggccggggggcg	0.368000												
GRIN3A	116443	broad.mit.edu	37	9	104433226	104433226	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:104433226C>A	uc004bbp.1	-	3	2069	c.1468G>T	c.(1468-1470)GTC>TTC	p.V490F	GRIN3A_uc004bbq.1_Missense_Mutation_p.V490F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	490	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAGTCCATGACAATCTTTCCC	0.498000												
DFNB31	25861	broad.mit.edu	37	9	117186780	117186780	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:117186780C>A	uc004biz.3	-	6	1899	c.1250G>T	c.(1249-1251)AGC>ATC	p.S417I	DFNB31_uc004bix.2_Missense_Mutation_p.S66I|DFNB31_uc004biy.3_Missense_Mutation_p.S34I|DFNB31_uc004bja.3_Missense_Mutation_p.S417I	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	417					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GTTCCCCAGGCTGCTCAGGGT	0.582000												
GUCY2F	2986	broad.mit.edu	37	X	108718759	108718759	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chrX:108718759G>C	uc004eod.3	-	2	683	c.407C>G	c.(406-408)TCG>TGG	p.S136W	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	136	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						TCCCAGGAGCGAGGCTGCCTC	0.498000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HNRPDL	9987	broad.mit.edu	37	4	83348624	83348625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:83348624_83348625insT	uc003hmr.2	-	4	1402_1403	c.867_868insA	c.(865-870)AAATTGfs	p.K289fs	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Frame_Shift_Ins_p.K289fs	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	289_290	RRM 2.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				CTTTCTAACAATTTTTTTACTG	0.287												
APC	324	broad.mit.edu	37	5	112174471	112174471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:112174471delA	uc010jby.2	+	16	3560	c.3180delA	c.(3178-3180)ATAfs	p.I1060fs	APC_uc011cvt.1_Frame_Shift_Del_p.I1042fs|APC_uc003kpz.3_Frame_Shift_Del_p.I1060fs|APC_uc003kpy.3_Frame_Shift_Del_p.I1060fs|APC_uc010jbz.2_Frame_Shift_Del_p.I777fs|APC_uc010jca.2_Frame_Shift_Del_p.I360fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1060	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Q1062fs*1(2)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGATGAAATAAAACAAAGTG	0.363		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
SPEN	23013	broad.mit.edu	37	1	16264327	16264328	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:16264326_16264327A>AG	uc001axk.1	+	12	10733_10734	c.10529_10530A>AG	c.(10528-10530)cagfs	p.Q3510fs	SPEN_uc010obp.1_Frame_Shift_Ins_p.Q3469fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3510	SPOC.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCGTGTGGCAGGGCCTGCTGG	0.594												
ITGAV	3685	broad.mit.edu	37	2	187521085	187521086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:187521084_187521085A>AG	uc002upq.3	+	16	1951_1952	c.1675_1676A>AG	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Ins_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431												
RBM6	10180	broad.mit.edu	37	3	50012778	50012779	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:50012777_50012778CCT>C	uc003cyc.3	+	4	1683_1684	c.1435_1436CCT>C	c.(1435-1437)cctfs	p.P479fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_5'UTR|RBM6_uc003cyd.3_5'UTR|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	479	RRM.				RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTTTCGGACTCCTGATGGCATG	0.366												
HNRPDL	9987	broad.mit.edu	37	4	83348625	83348626	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:83348624_83348625A>AT	uc003hmr.3	-	3	1402_1403	c.867_868T>AT	c.(865-870)aaattgfs	p.K289fs	HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Frame_Shift_Ins_p.K289fs	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	289	RRM 2.				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				CTTTCTAACAATTTTTTTACTG	0.287												
MMP10	4319	broad.mit.edu	37	11	102650395	102650395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:102650394_102650394AT>A	uc001phg.2	-	1	225	c.188_188AT>T	c.(187-189)atcfs	p.I63fs		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	63					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CATTCCTTGGATTTTTTTAAC	0.423												
GAS6	2621	broad.mit.edu	37	13	114542718	114542719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr13:114542717_114542718G>GC	uc001vud.3	-	4	602_603	c.449_450C>GC	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGCAGAGCCGGCCCCCCCAGCC	0.649												
TP53	7157	broad.mit.edu	37	17	7577560	7577560	+	Frame_Shift_Del	DEL	A	A	-	rs28934573		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:7577559_7577559GA>G	uc002gim.2	-	6	916	c.722_722TC>C	c.(721-723)tccfs	p.S241fs	TP53_uc002gig.1_Frame_Shift_Del_p.S241fs|TP53_uc002gih.3_Frame_Shift_Del_p.S241fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.S109fs|TP53_uc010cnf.1_Frame_Shift_Del_p.S109fs|TP53_uc002gii.1_Frame_Shift_Del_p.S109fs|TP53_uc010cni.1_Frame_Shift_Del_p.S241fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S241fs|TP53_uc002gij.2_Frame_Shift_Del_p.S241fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.S148fs|TP53_uc002gio.2_Frame_Shift_Del_p.S109fs|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TLCD1	116238	broad.mit.edu	37	17	27051543	27051547	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:27051542_27051546ACTTGT>A	uc002hco.3	-	3	841_845	c.726_730ACAAGT>T	c.(724-732)gacaagttcfs	p.D242fs	TLCD1_uc010waw.2_Frame_Shift_Del_p.D195fs	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	Homo sapiens TLC domain containing 1 (TLCD1), transcript variant 1, mRNA.	242						integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TCAGTCAAGAACTTGTCTTTGTGTT	0.522												
ZNF211	10520	broad.mit.edu	37	19	58153269	58153270	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:58153268_58153269CAG>C	uc002qpr.2	+	5	1909_1910	c.1606_1607CAG>C	c.(1606-1608)cagfs	p.Q536fs	ZNF211_uc010yhb.1_Frame_Shift_Del_p.Q476fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.Q485fs|ZNF211_uc002qpq.2_Frame_Shift_Del_p.Q472fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.Q484fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.Q484fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.Q463fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.Q411fs	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	472						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGAACCACCAGAGAGTTCAC	0.455												
