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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PADI2	11240	broad.mit.edu	37	1	17402181	17402181	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:17402181C>T	uc001baf.2	-	12	1530	c.1448G>A	c.(1447-1449)GGC>GAC	p.G483D	PADI2_uc010ocm.1_Missense_Mutation_p.G367D	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	483					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACCTTTGTGCCGGGGATGGG	0.587											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	199					0	0	0.001168	0	0
SPAG17	200162	broad.mit.edu	37	1	118523986	118523986	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:118523986T>C	uc001ehk.2	-	43	5979	c.5911A>G	c.(5911-5913)AGT>GGT	p.S1971G		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1971						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGGCACACTTGAGGATTTC	0.343													30	179					0	0	0.002445	0	0
TBX15	6913	broad.mit.edu	37	1	119428085	119428085	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:119428085G>A	uc001ehl.1	-	8	1076	c.761C>T	c.(760-762)TCG>TTG	p.S254L	TBX15_uc009whj.1_Missense_Mutation_p.S78L	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478													4	30					0	0	0.000602	0	0
F5	2153	broad.mit.edu	37	1	169529938	169529938	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:169529938T>C	uc001ggg.1	-	4	585	c.440A>G	c.(439-441)GAA>GGA	p.E147G	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	147	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAGGTGTATTCTCGGCCTGG	0.517													43	276					0	0	0.002852	0	0
BPNT1	10380	broad.mit.edu	37	1	220240686	220240686	+	Silent	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:220240686T>C	uc001hma.2	-	6	604	c.432A>G	c.(430-432)AAA>AAG	p.K144K	BPNT1_uc010pug.1_Silent_p.K89K|BPNT1_uc010puh.1_Silent_p.K108K|BPNT1_uc001hmb.3_Silent_p.K144K	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	144					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		CTGCTATGGCTTTTCCTTCAT	0.289													3	112					0	0	0.000248	0	0
PCNXL2	80003	broad.mit.edu	37	1	233150467	233150467	+	Silent	SNP	G	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:233150467G>C	uc001hvl.2	-	28	5131	c.4896C>G	c.(4894-4896)GCC>GCG	p.A1632A	PCNXL2_uc001hvk.1_Silent_p.A284A|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1632						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGCACAGGGCGAAGGACA	0.537													5	169					0	0	0.000602	0	0
LOC441666	441666	broad.mit.edu	37	10	42832499	42832499	+	RNA	SNP	C	G	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr10:42832499C>G	uc010qey.1	-	3		c.1476G>C				NR_024380				Homo sapiens noncoding mRNA sequence.												0						TCTCCCCTATCAATTATGTTT	0.363													2	15					0	0	0.004672	0	0
ODF3	113746	broad.mit.edu	37	11	200001	200001	+	Missense_Mutation	SNP	T	G	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:200001T>G	uc001lob.2	+	7	1027	c.733T>G	c.(733-735)TAC>GAC	p.Y245D	ODF3_uc010qvk.1_Missense_Mutation_p.Y198D|ODF3_uc001loc.2_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	245					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACACTCTGATTACATGACTCC	0.607													3	94					0	0	0.004672	0	0
NAT10	55226	broad.mit.edu	37	11	34152413	34152413	+	Missense_Mutation	SNP	A	C	C	rs147641652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:34152413A>C	uc001mvk.2	+	13	1542	c.1298A>C	c.(1297-1299)CAA>CCA	p.Q433P	NAT10_uc010ren.1_Missense_Mutation_p.Q361P	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	433						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGCTCCGTCAACAGAGCGCC	0.567													34	127					0	0	0.007835	0	0
OR5A1	219982	broad.mit.edu	37	11	59211549	59211549	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:59211549C>T	uc001nnx.1	+	1	908	c.908C>T	c.(907-909)GCC>GTC	p.A303V		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						ATCAAGGATGCCCTGTGGAAG	0.428													5	306					0	0	0.001984	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:2062350C>G	uc001qjx.1	-	7	836	c.756G>C	c.(754-756)CAG>CAC	p.Q252H	DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.458													4	32					0	0	0.000602	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200512	8200512	+	Silent	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:8200512G>A	uc001qtu.2	+	7	1937	c.852G>A	c.(850-852)TCG>TCA	p.S284S	FOXJ2_uc001qtt.1_Silent_p.S284S	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	284					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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 factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		TCCCACCCTCGAACAACTACT	0.403													9	88					0	0	0.004482	0	0
PZP	5858	broad.mit.edu	37	12	9317915	9317915	+	Silent	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9317915G>A	uc001qvl.2	-	19	2336	c.2307C>T	c.(2305-2307)ACC>ACT	p.T769T	PZP_uc009zgl.2_Silent_p.T638T|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.T101T	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CCTTCCACTCGGTGATGGTGT	0.537													31	99					0	0	0.002222	0	0
MANSC1	54682	broad.mit.edu	37	12	12483294	12483294	+	Silent	SNP	C	T	T	rs146158847	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:12483294C>T	uc001rai.1	-	4	1221	c.963G>A	c.(961-963)CCG>CCA	p.P321P	MANSC1_uc010shm.1_Silent_p.P255P|MANSC1_uc001raj.1_Silent_p.P287P|MANSC1_uc009zht.1_Silent_p.P240P	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	321	Thr-rich.|Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458													24	210					0	0	0.003954	0	0
COCH	1690	broad.mit.edu	37	14	31348670	31348670	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31348670T>C	uc001wqr.2	+	6	495	c.415T>C	c.(415-417)TCC>CCC	p.S139P	COCH_uc001wqp.2_Missense_Mutation_p.S139P|COCH_uc001wqq.3_Missense_Mutation_p.S139P|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	139					sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		ACAAGCAGTGTCCACAGCACA	0.393													44	129					0	0	0.003610	0	0
STRN3	29966	broad.mit.edu	37	14	31380280	31380280	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31380280G>A	uc001wqu.2	-	13	1903	c.1687C>T	c.(1687-1689)CCG>TCG	p.P563S	STRN3_uc001wqv.2_Missense_Mutation_p.P479S|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	563	WD 2.				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368													4	181					0	0	0.000602	0	0
GPR132	29933	broad.mit.edu	37	14	105518221	105518221	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105518221C>T	uc001yqd.2	-	4	1152	c.253G>A	c.(253-255)GCA>ACA	p.A85T	GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.A76T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	85	Helical; Name=2; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGAGTGCCAGGCAGAGC	0.657													4	176					0	0	0.000248	0	0
BRF1	2972	broad.mit.edu	37	14	105752650	105752650	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105752650G>A	uc001yqp.2	-	2	611	c.248C>T	c.(247-249)GCG>GTG	p.A83V	BRF1_uc010tyo.1_5'UTR|BRF1_uc010typ.1_5'UTR|BRF1_uc010axg.1_Intron|BRF1_uc001yqr.2_Missense_Mutation_p.A83V	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	83					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGGGTCTGCGCTCTCGACTC	0.587													3	34					0	0	0.000248	0	0
RYR3	6263	broad.mit.edu	37	15	34130251	34130251	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:34130251T>C	uc001zhi.2	+	89	12140	c.12070T>C	c.(12070-12072)TAC>CAC	p.Y4024H	RYR3_uc010bar.2_Missense_Mutation_p.Y4019H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4024					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTGCTAAATTACTTCGAACC	0.468													74	198					0	0	0.003610	0	0
HDC	3067	broad.mit.edu	37	15	50555560	50555560	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:50555560G>A	uc001zxz.2	-	2	182	c.76C>T	c.(76-78)CGG>TGG	p.R26W	HDC_uc010uff.1_Missense_Mutation_p.R26W|HDC_uc010bet.1_Missense_Mutation_p.R26W|HDC_uc010beu.1_Missense_Mutation_p.R26W	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	26					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTCTCTCCCGCACAGTGCTC	0.577													4	168					0	0	0.000248	0	0
HEXA	3073	broad.mit.edu	37	15	72668152	72668152	+	Silent	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:72668152C>T	uc002aun.3	-	1	369	c.162G>A	c.(160-162)GCG>GCA	p.A54A	CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Silent_p.A54A|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Silent_p.A54A|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	54					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						AGCCGGGCTGCGCGGCCGAGC	0.617													5	336					0	0	0.001984	0	0
KIFC3	3801	broad.mit.edu	37	16	57805333	57805333	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:57805333C>T	uc002emp.2	-	6	739	c.542G>A	c.(541-543)CGT>CAT	p.R181H	KIFC3_uc010vhw.1_Missense_Mutation_p.R79H|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.R42H|KIFC3_uc010vhx.1_Missense_Mutation_p.R42H|KIFC3_uc010cdf.2_Missense_Mutation_p.R42H|KIFC3_uc002emo.3_Missense_Mutation_p.R42H|KIFC3_uc010vhy.1_Missense_Mutation_p.R123H|KIFC3_uc002emq.2_Missense_Mutation_p.R181H|KIFC3_uc010vhz.1_Missense_Mutation_p.R203H|KIFC3_uc002emr.1_Intron	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	181	Potential.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				CAGCTTGTCACGGAGCTGGGC	0.627													6	397					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577144A>C	uc002gim.2	-	8	988	c.794T>G	c.(793-795)CTG>CGG	p.L265R	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.L265R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L133R|TP53_uc010cng.1_Missense_Mutation_p.L133R|TP53_uc002gii.1_Missense_Mutation_p.L133R|TP53_uc010cnh.1_Missense_Mutation_p.L265R|TP53_uc010cni.1_Missense_Mutation_p.L265R|TP53_uc002gij.2_Missense_Mutation_p.L265R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	265	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(14)|p.0?(7)|p.L265M(4)|p.L265R(3)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G262_F270delGNLLGRNSF(2)|p.L265del(2)|p.G262_S269delGNLLGRNS(2)|p.L265Q(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265fs*81(1)|p.G262fs*2(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GTTCCGTCCCAGTAGATTACC	0.522		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			15	36					0	0	0.002450	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	T	T	rs11540652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			44	37					0	0	0.003610	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904107	21904107	+	RNA	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:21904107G>A	uc002gza.2	+	1		c.46G>A				NR_027084				Homo sapiens cDNA FLJ36000 fis, clone TESTI2015180.												0						gaacgtctccggctgccagga	0													4	55					0	0	0.001168	0	0
ACACA	31	broad.mit.edu	37	17	35600456	35600456	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:35600456C>T	uc002hnm.2	-	22	2842	c.2651G>A	c.(2650-2652)CGA>CAA	p.R884Q	ACACA_uc002hnk.2_Missense_Mutation_p.R806Q|ACACA_uc002hnl.2_Missense_Mutation_p.R826Q|ACACA_uc002hnn.2_Missense_Mutation_p.R884Q|ACACA_uc002hno.2_Missense_Mutation_p.R921Q|ACACA_uc010cuz.2_Missense_Mutation_p.R884Q	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	884					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCATCAATCGCTCTACCCA	0.398													91	273					0	0	0.003610	0	0
TMEM49	81671	broad.mit.edu	37	17	57851219	57851219	+	Missense_Mutation	SNP	G	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:57851219G>T	uc002ixu.3	+	7	960	c.687G>T	c.(685-687)GAG>GAT	p.E229D	TMEM49_uc010wog.1_Missense_Mutation_p.E37D|TMEM49_uc010woh.1_Missense_Mutation_p.E173D|TMEM49_uc010woi.1_Missense_Mutation_p.E132D|TMEM49_uc010woj.1_Missense_Mutation_p.E95D	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	229	Extracellular (Potential).				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)			AATTTGAAGAGATGCTGGAAC	0.438													13	96					9.31168e-06	1.13486e-05	0.001855	1	0
RGS9	8787	broad.mit.edu	37	17	63200387	63200387	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:63200387G>A	uc002jfe.2	+	15	1281	c.1171G>A	c.(1171-1173)GCA>ACA	p.A391T	RGS9_uc010dem.2_Missense_Mutation_p.A388T|RGS9_uc002jfd.2_Missense_Mutation_p.A388T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.A162T	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						GCTGGACGCCGCACAAACCCA	0.562													4	115					0	0	0.000248	0	0
SPIRE1	56907	broad.mit.edu	37	18	12493109	12493109	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:12493109C>T	uc002kre.2	-	8	1198	c.1151G>A	c.(1150-1152)CGG>CAG	p.R384Q	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.R264Q|SPIRE1_uc010wzx.1_Missense_Mutation_p.R187Q|SPIRE1_uc010wzy.1_Missense_Mutation_p.R384Q	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	384	WH2 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding				0						TGATACAGGCCGCAGCTTTCT	0.458													13	99					0	0	0.001368	0	0
CALR	811	broad.mit.edu	37	19	13050007	13050007	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:13050007C>G	uc002mvu.2	+	2	231	c.151C>G	c.(151-153)CTC>GTC	p.L51V		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	51	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATTCGTTCTCAGTTCCGG	0.527											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	21					0	0	0.000248	0	0
ZNF675	171392	broad.mit.edu	37	19	23837026	23837026	+	Missense_Mutation	SNP	A	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:23837026A>C	uc002nri.2	-	4	891	c.709T>G	c.(709-711)TTT>GTT	p.F237V		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	237	C2H2-type 4; degenerate.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AATTGGTTAAAAGTTCTGTCA	0.323													5	147					0	0	0.000602	0	0
HNRNPL	3191	broad.mit.edu	37	19	39334685	39334685	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:39334685T>C	uc010xul.1	-	5	781	c.770A>G	c.(769-771)TAT>TGT	p.Y257C	HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Missense_Mutation_p.Y124C|HNRNPL_uc010xun.1_5'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	257	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACAGCCAGAATAGATATCAGC	0.517													19	190					0	0	0.001882	0	0
HOXD4	3233	broad.mit.edu	37	2	177017514	177017514	+	Missense_Mutation	SNP	C	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:177017514C>A	uc002uks.2	+	2	861	c.612C>A	c.(610-612)AAC>AAA	p.N204K		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	204	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCAGAACCGGAGGATGA	0.502													19	151					5.3912e-06	6.67482e-06	0.006122	1	0
ZDBF2	57683	broad.mit.edu	37	2	207169636	207169636	+	Silent	SNP	G	A	A	rs143619911	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:207169636G>A	uc002vbp.2	+	5	634	c.384G>A	c.(382-384)ACG>ACA	p.T128T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	128							nucleic acid binding|zinc ion binding			ovary(3)	3						AGGAAGGCACGCAGGAGGTTT	0.453													12	62					0	0	0.001368	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma 								41	87					0	0	0.002522	0	0
EPHA4	2043	broad.mit.edu	37	2	222347239	222347239	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:222347239A>G	uc002vmq.2	-	5	1193	c.1151T>C	c.(1150-1152)GTC>GCC	p.V384A	EPHA4_uc002vmr.2_Missense_Mutation_p.V384A|EPHA4_uc010zlm.1_Missense_Mutation_p.V325A|EPHA4_uc010zln.1_Missense_Mutation_p.V384A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	384	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAGTGGACCCCACTTCC	0.512													88	518					0	0	0.003610	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327096	28327096	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr21:28327096T>C	uc002ymg.2	-	2	1928	c.1199A>G	c.(1198-1200)GAT>GGT	p.D400G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GTGGAGGCCATCGTCTTCAAT	0.517													7	152					0	0	0.003080	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	C	C	rs2982057	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:42538870A>C	uc003bci.2	-	3	475	c.94T>G	c.(94-96)TCG>GCG	p.S32A	CYP2D7P1_uc003bcg.2_5'Flank|CYP2D7P1_uc003bch.2_5'Flank|CYP2D7P1_uc010gyv.2_Intron|CYP2D7P1_uc010gyw.2_RNA|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A	NR_002570				SubName: Full=Cytochrome P450 2D6;          EC=1.14.14.1;												0						CCATAGCGCGACAGGAACACC	0.687													3	27					0	0	0.004672	0	0
TRABD	80305	broad.mit.edu	37	22	50636413	50636413	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:50636413G>A	uc003bjq.1	+	8	919	c.833G>A	c.(832-834)CGG>CAG	p.R278Q	TRABD_uc003bjr.1_Missense_Mutation_p.R162Q|TRABD_uc003bjs.1_Missense_Mutation_p.R278Q|TRABD_uc003bjt.1_Missense_Mutation_p.R278Q|TRABD_uc003bju.1_Missense_Mutation_p.R278Q|TRABD_uc003bjv.2_Missense_Mutation_p.R278Q|TRABD_uc003bjw.1_Missense_Mutation_p.R278Q|SELO_uc011arr.1_5'Flank	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	278											0		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCTGCCTCGGGCCTCTGAC	0.697													35	58					0	0	0.003610	0	0
MLH1	4292	broad.mit.edu	37	3	37045902	37045902	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:37045902G>A	uc003cgl.2	+	4	377	c.317G>A	c.(316-318)AGC>AAC	p.S106N	MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.S106N|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Missense_Mutation_p.S8N|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	106			S -> R (in gastric cancer; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						GCTTTGGCCAGCATAAGCCAT	0.408		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				5	246					0	0	0.001168	0	0
GABRB1	2560	broad.mit.edu	37	4	47427893	47427893	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:47427893G>A	uc003gxh.2	+	9	1657	c.1283G>A	c.(1282-1284)CGC>CAC	p.R428H	GABRB1_uc011bze.1_Missense_Mutation_p.R358H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	428	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCAAGGGGCGCATCCGCAGG	0.607													4	174					0	0	0.000248	0	0
CEP135	9662	broad.mit.edu	37	4	56823426	56823426	+	Silent	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:56823426T>C	uc003hbi.2	+	5	744	c.510T>C	c.(508-510)CGT>CGC	p.R170R	CEP135_uc003hbh.1_Silent_p.R170R|CEP135_uc010igz.1_5'UTR	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	170					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					GGCGCCAGCGTATGCAAATTG	0.398													4	271					0	0	0.000248	0	0
ATOH1	474	broad.mit.edu	37	4	94750547	94750547	+	Missense_Mutation	SNP	A	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:94750547A>C	uc003hta.1	+	1	470	c.470A>C	c.(469-471)CAG>CCG	p.Q157P		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	157					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AATGGGGTGCAGAAGCAGAGA	0.632													23	42					0	0	0.005443	0	0
SLIT3	6586	broad.mit.edu	37	5	168112756	168112756	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:168112756C>T	uc003mab.2	-	31	3911	c.3491G>A	c.(3490-3492)GGC>GAC	p.G1164D	SLIT3_uc010jjg.2_Missense_Mutation_p.G1171D	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1164	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGTCTTTGCCCACGAAGTT	0.662													4	111					0	0	0.000602	0	0
EXOC2	55770	broad.mit.edu	37	6	572531	572531	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:572531G>A	uc003mtd.2	-	13	1566	c.1432C>T	c.(1432-1434)CTC>TTC	p.L478F	EXOC2_uc003mte.2_Missense_Mutation_p.L478F|EXOC2_uc011dho.1_Missense_Mutation_p.L73F	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	478					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCACTGAAGAGGCTTCCATTA	0.438													13	69					0	0	0.001855	0	0
PIM1	5292	broad.mit.edu	37	6	37138975	37138975	+	Missense_Mutation	SNP	G	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:37138975G>C	uc003onk.2	+	4	745	c.315G>C	c.(313-315)AGG>AGC	p.R105S	PIM1_uc011dtw.1_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	196	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCGTCATTAGGCTCCTGGACT	0.617			T	BCL6	NHL								5	347					0	0	0.000602	0	0
TBRG4	9238	broad.mit.edu	37	7	45148519	45148519	+	Silent	SNP	C	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:45148519C>T	uc003tmv.2	-	2	444	c.318G>A	c.(316-318)CGG>CGA	p.R106R	TBRG4_uc003tmu.2_5'Flank|TBRG4_uc003tmw.2_Silent_p.R106R|TBRG4_uc003tmx.2_Silent_p.R106R|TBRG4_uc011kcd.1_Silent_p.R117R|SNORA5B_uc003tna.3_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	106					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						AGTGAGAGAGCCGGATAAGTA	0.517													5	242					0	0	0.000602	0	0
RBM33	155435	broad.mit.edu	37	7	155530752	155530752	+	Splice_Site	SNP	A	G	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:155530752A>G	uc010lqk.1	+	11	1762	c.1394_splice	c.e11-2	p.V465_splice	RBM33_uc011kvv.1_Splice_Site_p.V274_splice	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33								nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTACCTTTCAGTTTCAGGTG	0.468													38	136					0	0	0.004878	0	0
ZFAT	57623	broad.mit.edu	37	8	135614421	135614421	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:135614421T>C	uc003yup.2	-	6	1716	c.1541A>G	c.(1540-1542)GAC>GGC	p.D514G	ZFAT_uc003yun.2_Missense_Mutation_p.D502G|ZFAT_uc003yuo.2_Missense_Mutation_p.D502G|ZFAT_uc010meh.2_Missense_Mutation_p.D502G|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.D502G|ZFAT_uc010mej.2_Missense_Mutation_p.D452G|ZFAT_uc003yur.2_Missense_Mutation_p.D502G	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTAGCTGGTCCCCCAGAGC	0.617													4	73					0	0	0.000602	0	0
DIAPH2	1730	broad.mit.edu	37	X	96639008	96639008	+	Missense_Mutation	SNP	A	T	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:96639008A>T	uc004efu.3	+	25	3506	c.3110A>T	c.(3109-3111)CAG>CTG	p.Q1037L	DIAPH2_uc004eft.3_Missense_Mutation_p.Q1037L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	1037	Potential.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TTAGAACGCCAGAAGAAAAAG	0.313													4	51					0	0	0.000248	0	0
MID2	11043	broad.mit.edu	37	X	107084365	107084365	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:107084365G>A	uc004enl.2	+	2	1043	c.470G>A	c.(469-471)TGT>TAT	p.C157Y	MID2_uc004enk.2_Missense_Mutation_p.C157Y	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	157	B box-type 1; degenerate.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						TGCATCACCTGTGAGGTCTCC	0.562													20	26					0	0	0.003330	0	0
CKAP5	9793	broad.mit.edu	37	11	46789159	46789159	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:46789159delT	uc001ndi.1	-	27	3487	c.3377delA	c.(3376-3378)AAGfs	p.K1126fs	CKAP5_uc009ylg.1_Frame_Shift_Del_p.K1012fs|CKAP5_uc001ndj.1_Frame_Shift_Del_p.K1126fs|CKAP5_uc001ndh.1_Frame_Shift_Del_p.K55fs	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1126					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						AGCTTTGGCCTTTTTTGGATC	0.323													7	308	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248158	75248159	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:75248158_75248159delAT	uc001xqj.3	+	4	1536_1537	c.1412_1413delAT	c.(1411-1413)CATfs	p.H471fs	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCTATCCTCATAAAGATCAGC	0.446													7	42	---	---	---	---					
NDUFV2	4729	broad.mit.edu	37	18	9134225	9134241	+	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	-	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:9134225_9134241delCTTTGACTGAACCACCC	uc002knu.2	+	8	765_781	c.698_714delCTTTGACTGAACCACCC	c.(697-714)TCTTTGACTGAACCACCCfs	p.S233fs	ANKRD12_uc010wzn.1_5'Flank|ANKRD12_uc002knv.2_5'Flank|ANKRD12_uc002knw.2_5'Flank	NM_021074	NP_066552	P19404	NDUV2_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 2	233_238					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)	GGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTG	0.346													16	239	---	---	---	---					
